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Mendeliome v0.829 LEMD2 Alison Yeung Gene: lemd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.827 PLD1 Zornitza Stark Gene: pld1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.825 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Mendeliome v0.824 FAM149B1 Alison Yeung Classified gene: FAM149B1 as Green List (high evidence)
Mendeliome v0.824 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Mendeliome v0.823 PLD1 Zornitza Stark Classified gene: PLD1 as Amber List (moderate evidence)
Mendeliome v0.823 PLD1 Zornitza Stark Gene: pld1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.821 CARS Alison Yeung Gene: cars has been classified as Green List (High Evidence).
Mendeliome v0.821 CARS Alison Yeung Classified gene: CARS as Green List (high evidence)
Mendeliome v0.821 CARS Alison Yeung Gene: cars has been classified as Green List (High Evidence).
Mendeliome v0.819 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Mendeliome v0.819 MAPK8IP3 Zornitza Stark Classified gene: MAPK8IP3 as Green List (high evidence)
Mendeliome v0.819 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Mendeliome v0.817 NCAPG2 Zornitza Stark Gene: ncapg2 has been classified as Green List (High Evidence).
Mendeliome v0.817 NCAPG2 Zornitza Stark Classified gene: NCAPG2 as Green List (high evidence)
Mendeliome v0.817 NCAPG2 Zornitza Stark Gene: ncapg2 has been classified as Green List (High Evidence).
Mendeliome v0.815 ADAMTS9 Zornitza Stark Gene: adamts9 has been classified as Green List (High Evidence).
Mendeliome v0.815 ADAMTS9 Zornitza Stark Classified gene: ADAMTS9 as Green List (high evidence)
Mendeliome v0.815 ADAMTS9 Zornitza Stark Gene: adamts9 has been classified as Green List (High Evidence).
Mendeliome v0.814 ADAMTS9 Zornitza Stark gene: ADAMTS9 was added
gene: ADAMTS9 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS9 were set to 30609407
Phenotypes for gene: ADAMTS9 were set to Nephronophthisis-Related Ciliopathy
Review for gene: ADAMTS9 was set to GREEN
Added comment: Two families reported with functional evidence
Sources: Literature
Mendeliome v0.813 RIC1 Zornitza Stark Gene: ric1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.813 RIC1 Zornitza Stark Classified gene: RIC1 as Amber List (moderate evidence)
Mendeliome v0.813 RIC1 Zornitza Stark Gene: ric1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.811 BICC1 Zornitza Stark Gene: bicc1 has been classified as Red List (Low Evidence).
Mendeliome v0.811 BICC1 Zornitza Stark Phenotypes for gene: BICC1 were changed from to {Renal dysplasia, cystic, susceptibility to}; OMIM #601331
Mendeliome v0.809 BICC1 Zornitza Stark Classified gene: BICC1 as Red List (low evidence)
Mendeliome v0.809 BICC1 Zornitza Stark Gene: bicc1 has been classified as Red List (Low Evidence).
Mendeliome v0.808 BNC2 Zornitza Stark Gene: bnc2 has been classified as Green List (High Evidence).
Mendeliome v0.808 BNC2 Zornitza Stark Classified gene: BNC2 as Green List (high evidence)
Mendeliome v0.808 BNC2 Zornitza Stark Gene: bnc2 has been classified as Green List (High Evidence).
Mendeliome v0.806 SIX2 Zornitza Stark Marked gene: SIX2 as ready
Mendeliome v0.806 SIX2 Zornitza Stark Added comment: Comment when marking as ready: Single family reported.
Mendeliome v0.806 SIX2 Zornitza Stark Gene: six2 has been classified as Red List (Low Evidence).
Mendeliome v0.806 SIX2 Zornitza Stark Phenotypes for gene: SIX2 were changed from to CAKUT
Mendeliome v0.805 SIX2 Zornitza Stark Publications for gene: SIX2 were set to
Mendeliome v0.804 SIX2 Zornitza Stark Mode of inheritance for gene: SIX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.803 SIX2 Zornitza Stark Classified gene: SIX2 as Red List (low evidence)
Mendeliome v0.803 SIX2 Zornitza Stark Gene: six2 has been classified as Red List (Low Evidence).
Mendeliome v0.802 SRGAP1 Zornitza Stark Gene: srgap1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.799 SRGAP1 Zornitza Stark Classified gene: SRGAP1 as Amber List (moderate evidence)
Mendeliome v0.799 SRGAP1 Zornitza Stark Gene: srgap1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.798 TET3 Zornitza Stark Gene: tet3 has been classified as Green List (High Evidence).
Mendeliome v0.798 TET3 Zornitza Stark Classified gene: TET3 as Green List (high evidence)
Mendeliome v0.798 TET3 Zornitza Stark Gene: tet3 has been classified as Green List (High Evidence).
Mendeliome v0.797 TET3 Zornitza Stark gene: TET3 was added
gene: TET3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TET3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TET3 were set to 31928709
Phenotypes for gene: TET3 were set to Intellectual disability; dysmorphic features; abnormal growth; movement disorders
Review for gene: TET3 was set to GREEN
Added comment: Eleven individuals from 8 families described. Mono-allelic frameshift and nonsense variants occur throughout the coding region. Mono-allelic and bi-allelic missense variants localize to conserved residues; all but one such variant occur within the catalytic domain, and most display hypomorphic function in an assay of catalytic activity.
Sources: Literature
Mendeliome v0.794 STN1 Zornitza Stark Gene: stn1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.794 STN1 Zornitza Stark Classified gene: STN1 as Amber List (moderate evidence)
Mendeliome v0.794 STN1 Zornitza Stark Gene: stn1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.791 JAM2 Zornitza Stark Gene: jam2 has been classified as Green List (High Evidence).
Mendeliome v0.791 JAM2 Zornitza Stark Classified gene: JAM2 as Green List (high evidence)
Mendeliome v0.791 JAM2 Zornitza Stark Gene: jam2 has been classified as Green List (High Evidence).
Mendeliome v0.789 TDP2 Zornitza Stark Gene: tdp2 has been classified as Green List (High Evidence).
Mendeliome v0.789 TDP2 Zornitza Stark Classified gene: TDP2 as Green List (high evidence)
Mendeliome v0.789 TDP2 Zornitza Stark Gene: tdp2 has been classified as Green List (High Evidence).
Mendeliome v0.788 TDP2 Zornitza Stark gene: TDP2 was added
gene: TDP2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: TDP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDP2 were set to 31410782; 30109272; 24658003
Phenotypes for gene: TDP2 were set to Spinocerebellar ataxia, autosomal recessive 23; OMIM #616949
Review for gene: TDP2 was set to GREEN
Added comment: ID is part of the phenotype: 4 families with 6 affected patients, with functional evidence.

1 family with 3 affected sibs with homozygous splice site mutation in the TDP2 gene. Patient cell extracts showed absence of the full-length TDP2 protein and absence of 5-prime TDP activity, consistent with a loss of function, although 3-prime TDP activity, conferred by TDP1, was normal. In addition, patient lymphoblastoid cells were hypersensitive to the TOP2 poison etoposide. The findings indicated impaired capacity for double-strand break repair.

1 unrelated Egyptian patient with a similar disorder was homozygous for a truncating mutation in the TDP2 gene

1 unrelated Caucasian patient with same homozygous splice site mutation in the TDP2 gene. Western blot analysis did not detect TDP2 protein in patient primary skin fibroblasts. Patient fibroblasts showed an inability to rapidly repair topoisomerase-induced DNA double-strand breaks in the nucleus and also showed a profound hypersensitivity to this type of DNA damage. Complementation of patient cells with recombinant human TDP2 restored normal rates of nuclear DSB repair.
Sources: Expert list
Mendeliome v0.787 TRMT1 Zornitza Stark Gene: trmt1 has been classified as Green List (High Evidence).
Mendeliome v0.787 TRMT1 Zornitza Stark Classified gene: TRMT1 as Green List (high evidence)
Mendeliome v0.787 TRMT1 Zornitza Stark Gene: trmt1 has been classified as Green List (High Evidence).
Mendeliome v0.786 TRMT1 Zornitza Stark gene: TRMT1 was added
gene: TRMT1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: TRMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT1 were set to 30289604; 26308914; 21937992
Phenotypes for gene: TRMT1 were set to Mental retardation, autosomal recessive 68; OMIM #618302
Review for gene: TRMT1 was set to GREEN
Added comment: 4 families reported:
-1 consanguineous Iranian family with 5 individuals with nonsyndromic moderate to severe impaired intellectual development.
-1 consanguineous Iranian family with 3 adult brothers with global developmental delay and moderately delayed intellectual development
-2 unrelated Pakistani families with 4 patients with impaired intellectual development.
All with homozygous mutations in the TRMT1 gene which segregated with the disorder in the families, but functional studies of the variants were not performed.
Sources: Expert list
Mendeliome v0.785 SLC35A3 Zornitza Stark Added comment: Comment when marking as ready: 1 family with 2 sibs, with segregation but no functional studies.

1 family with 8 affected people. The mutations segregated with the disorder in the family. Patient cells showed no normal transcript, indicating that they had no functional SLC35A3 protein. Golgi vesicles derived from patient fibroblasts showed significantly reduced transport of UDP-GlCNAc compared to controls.
Mendeliome v0.785 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.785 SLC35A3 Zornitza Stark Phenotypes for gene: SLC35A3 were changed from to Arthrogryposis, mental retardation, and seizures; OMIM #615553
Mendeliome v0.782 SLC35A3 Zornitza Stark Classified gene: SLC35A3 as Amber List (moderate evidence)
Mendeliome v0.782 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.781 SLC9A7 Zornitza Stark Gene: slc9a7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.781 SLC9A7 Zornitza Stark Classified gene: SLC9A7 as Amber List (moderate evidence)
Mendeliome v0.781 SLC9A7 Zornitza Stark Gene: slc9a7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.780 SLC9A7 Zornitza Stark gene: SLC9A7 was added
gene: SLC9A7 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SLC9A7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC9A7 were set to 30335141
Phenotypes for gene: SLC9A7 were set to Intellectual developmental disorder, X-linked 108; OMIM #301024
Review for gene: SLC9A7 was set to AMBER
Added comment: 6 males from 2 unrelated families with hemizygous missense mutation in the SLC9A7 gene. The mutation segregated with the disorder in the family. In vitro functional expression studies in CHO cells (AP-1 cells) showed that the mutation caused decreased levels of protein expression and reduced oligosaccharide maturation/glycosylation compared to wildtype, indicating impaired posttranslational processing. Subcellular localization studies indicated that protein trafficking was unaffected by the mutation. However, examination of the trans-Golgi compartment suggested a gain-of-function effect and a perturbation of glycosylation of secretory cargo. Serum transferrin studies in 1 patient suggested a glycosylation defect.
Sources: Literature
Mendeliome v0.779 KIAA1161 Zornitza Stark Gene: kiaa1161 has been classified as Green List (High Evidence).
Mendeliome v0.779 KIAA1161 Zornitza Stark Classified gene: KIAA1161 as Green List (high evidence)
Mendeliome v0.779 KIAA1161 Zornitza Stark Gene: kiaa1161 has been classified as Green List (High Evidence).
Mendeliome v0.778 KIAA1161 Zornitza Stark gene: KIAA1161 was added
gene: KIAA1161 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: KIAA1161 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA1161 were set to 30656188; 30649222; 30460687; 29910000
Phenotypes for gene: KIAA1161 were set to Basal ganglia calcification, idiopathic, 7, autosomal recessive; OMIM #618317
Review for gene: KIAA1161 was set to GREEN
Added comment: Total 9 families, but no functional evidence:

12 patients from 6 unrelated Chinese families reported by Yao et al. (2018) and homozygous or compound heterozygous mutations in the MYORG gene. Functional studies of the variants and studies of patient cells were not performed, but the presence of nonsense mutations suggested a loss of function.

1 Chinese woman identified with homozygous nonsense mutation in the MYORG gene, segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed.

2 unrelated Middle Eastern families with homozygous mutations in the MYORG gene, which segregated with the disorder in the families. Functional studies of the variants were not performed.

4 sibs from one Turkish family with homozygous missense mutation in the MYORG gene, which segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed.
Sources: Literature
Mendeliome v0.777 ZC3H14 Zornitza Stark Gene: zc3h14 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.777 ZC3H14 Zornitza Stark Phenotypes for gene: ZC3H14 were changed from to Mental retardation, autosomal recessive 56; OMIM# 617125
Mendeliome v0.775 ZC3H14 Zornitza Stark Classified gene: ZC3H14 as Amber List (moderate evidence)
Mendeliome v0.775 ZC3H14 Zornitza Stark Gene: zc3h14 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.774 ZFHX3 Zornitza Stark Gene: zfhx3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.774 ZFHX3 Zornitza Stark Classified gene: ZFHX3 as Amber List (moderate evidence)
Mendeliome v0.774 ZFHX3 Zornitza Stark Gene: zfhx3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.773 KLLN Zornitza Stark Gene: klln has been classified as Red List (Low Evidence).
Mendeliome v0.772 KLLN Zornitza Stark Classified gene: KLLN as Red List (low evidence)
Mendeliome v0.772 KLLN Zornitza Stark Gene: klln has been classified as Red List (Low Evidence).
Mendeliome v0.770 MDH1 Zornitza Stark Gene: mdh1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.770 MDH1 Zornitza Stark Classified gene: MDH1 as Amber List (moderate evidence)
Mendeliome v0.770 MDH1 Zornitza Stark Gene: mdh1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.769 MDH1 Zornitza Stark gene: MDH1 was added
gene: MDH1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: MDH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDH1 were set to 31538237
Phenotypes for gene: MDH1 were set to epilepsy; microcephaly; intellectual disability
Review for gene: MDH1 was set to AMBER
Added comment: single consanguinous family with biallelic missense variant in this gene and epilepsy, microcephaly, ID; some functional data.
Sources: Literature
Mendeliome v0.768 ISLR2 Zornitza Stark Gene: islr2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.768 ISLR2 Zornitza Stark Classified gene: ISLR2 as Amber List (moderate evidence)
Mendeliome v0.768 ISLR2 Zornitza Stark Gene: islr2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.767 ISLR2 Zornitza Stark gene: ISLR2 was added
gene: ISLR2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ISLR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISLR2 were set to 30483960
Phenotypes for gene: ISLR2 were set to hydrocephalus; arthrogryposis; abdominal distension
Review for gene: ISLR2 was set to AMBER
Added comment: single consanguineous family with hydrocephalus and arthrogryposis and homozygous truncating variant, mouse model has hydrocephalus
Sources: Literature
Mendeliome v0.766 AGMO Sue White Gene: agmo has been classified as Green List (High Evidence).
Mendeliome v0.766 AGMO Sue White Classified gene: AGMO as Green List (high evidence)
Mendeliome v0.766 AGMO Sue White Gene: agmo has been classified as Green List (High Evidence).
Mendeliome v0.764 NOTCH2NL Sue White Gene: notch2nl has been classified as Green List (High Evidence).
Mendeliome v0.764 NOTCH2NL Sue White Classified gene: NOTCH2NL as Green List (high evidence)
Mendeliome v0.764 NOTCH2NL Sue White Gene: notch2nl has been classified as Green List (High Evidence).
Mendeliome v0.763 NOTCH2NL Sue White gene: NOTCH2NL was added
gene: NOTCH2NL was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NOTCH2NL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOTCH2NL were set to 31332381
Phenotypes for gene: NOTCH2NL were set to OMIM 603472 NEURONAL INTRANUCLEAR INCLUSION DISEASE; NIID
Penetrance for gene: NOTCH2NL were set to unknown
Mode of pathogenicity for gene: NOTCH2NL was set to Other
Review for gene: NOTCH2NL was set to GREEN
gene: NOTCH2NL was marked as current diagnostic
Added comment: adult onset neurodegenerative condition caused by STR expansion 5' of NOTCH2NL
Sources: Literature
Mendeliome v0.762 RFC1 Sue White Gene: rfc1 has been classified as Green List (High Evidence).
Mendeliome v0.762 RFC1 Sue White Classified gene: RFC1 as Green List (high evidence)
Mendeliome v0.762 RFC1 Sue White Gene: rfc1 has been classified as Green List (High Evidence).
Mendeliome v0.761 RFC1 Sue White gene: RFC1 was added
gene: RFC1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: RFC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFC1 were set to 30926972
Phenotypes for gene: RFC1 were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome OMIM 614575
Penetrance for gene: RFC1 were set to unknown
Mode of pathogenicity for gene: RFC1 was set to Other
Review for gene: RFC1 was set to GREEN
Added comment: adult onset ataxia due to biallelic intronic STR expansion
Sources: Literature
Mendeliome v0.760 AVPR2 Zornitza Stark Phenotypes for gene: AVPR2 were changed from to Diabetes insipidus, nephrogenic 304800; Nephrogenic syndrome of inappropriate antidiuresis 300539
Mendeliome v0.757 TRAC Zornitza Stark Gene: trac has been classified as Green List (High Evidence).
Mendeliome v0.757 TRAC Zornitza Stark Classified gene: TRAC as Green List (high evidence)
Mendeliome v0.757 TRAC Zornitza Stark Gene: trac has been classified as Green List (High Evidence).
Mendeliome v0.755 NSMCE3 Zornitza Stark Gene: nsmce3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.752 NSMCE3 Zornitza Stark Classified gene: NSMCE3 as Amber List (moderate evidence)
Mendeliome v0.752 NSMCE3 Zornitza Stark Gene: nsmce3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.751 MYSM1 Zornitza Stark Gene: mysm1 has been classified as Green List (High Evidence).
Mendeliome v0.751 MYSM1 Zornitza Stark Classified gene: MYSM1 as Green List (high evidence)
Mendeliome v0.751 MYSM1 Zornitza Stark Gene: mysm1 has been classified as Green List (High Evidence).
Mendeliome v0.749 AVPR2 Belinda Chong reviewed gene: AVPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 9127330, PubMed: 15872203; Phenotypes: Diabetes insipidus, nephrogenic 304800, Nephrogenic syndrome of inappropriate antidiuresis 300539; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.749 STAG2 Zornitza Stark Gene: stag2 has been classified as Green List (High Evidence).
Mendeliome v0.749 STAG2 Zornitza Stark Classified gene: STAG2 as Green List (high evidence)
Mendeliome v0.749 STAG2 Zornitza Stark Gene: stag2 has been classified as Green List (High Evidence).
Mendeliome v0.747 IRF3 Zornitza Stark Gene: irf3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.744 IRF3 Zornitza Stark Classified gene: IRF3 as Amber List (moderate evidence)
Mendeliome v0.744 IRF3 Zornitza Stark Gene: irf3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.743 MESD Zornitza Stark Gene: mesd has been classified as Green List (High Evidence).
Mendeliome v0.743 MESD Zornitza Stark Classified gene: MESD as Green List (high evidence)
Mendeliome v0.743 MESD Zornitza Stark Gene: mesd has been classified as Green List (High Evidence).
Mendeliome v0.742 MESD Zornitza Stark gene: MESD was added
gene: MESD was added to Mendeliome_VCGS. Sources: Other
Mode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MESD were set to 31564437
Phenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX, MIM# 618644
Review for gene: MESD was set to GREEN
Added comment: Five families reported.
Sources: Other
Mendeliome v0.741 EHHADH Zornitza Stark Gene: ehhadh has been classified as Red List (Low Evidence).
Mendeliome v0.739 EHHADH Zornitza Stark Classified gene: EHHADH as Red List (low evidence)
Mendeliome v0.739 EHHADH Zornitza Stark Gene: ehhadh has been classified as Red List (Low Evidence).
Mendeliome v0.738 VTN Zornitza Stark Gene: vtn has been classified as Red List (Low Evidence).
Mendeliome v0.735 VTN Zornitza Stark Classified gene: VTN as Red List (low evidence)
Mendeliome v0.735 VTN Zornitza Stark Gene: vtn has been classified as Red List (Low Evidence).
Mendeliome v0.733 ANLN Zornitza Stark Classified gene: ANLN as Amber List (moderate evidence)
Mendeliome v0.733 ANLN Zornitza Stark Gene: anln has been classified as Amber List (Moderate Evidence).
Mendeliome v0.732 ANLN Zornitza Stark reviewed gene: ANLN: Rating: AMBER; Mode of pathogenicity: None; Publications: 24676636, 30002222; Phenotypes: Focal segmental glomerulosclerosis 8, OMIM #616032; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.732 ARHGAP24 Zornitza Stark Gene: arhgap24 has been classified as Red List (Low Evidence).
Mendeliome v0.729 ARHGAP24 Zornitza Stark Classified gene: ARHGAP24 as Red List (low evidence)
Mendeliome v0.729 ARHGAP24 Zornitza Stark Gene: arhgap24 has been classified as Red List (Low Evidence).
Mendeliome v0.728 CD2AP Zornitza Stark Gene: cd2ap has been classified as Amber List (Moderate Evidence).
Mendeliome v0.728 CD2AP Zornitza Stark Phenotypes for gene: CD2AP were changed from to Glomerulosclerosis, focal segmental, 3, OMIM #607832
Mendeliome v0.725 CD2AP Zornitza Stark Classified gene: CD2AP as Amber List (moderate evidence)
Mendeliome v0.725 CD2AP Zornitza Stark Gene: cd2ap has been classified as Amber List (Moderate Evidence).
Mendeliome v0.724 CD2AP Zornitza Stark reviewed gene: CD2AP: Rating: AMBER; Mode of pathogenicity: None; Publications: 30612599, 17713465; Phenotypes: Glomerulosclerosis, focal segmental, 3, OMIM #607832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.724 ITSN1 Zornitza Stark Gene: itsn1 has been classified as Green List (High Evidence).
Mendeliome v0.724 ITSN1 Zornitza Stark Classified gene: ITSN1 as Green List (high evidence)
Mendeliome v0.724 ITSN1 Zornitza Stark Gene: itsn1 has been classified as Green List (High Evidence).
Mendeliome v0.722 LAMA5 Zornitza Stark Gene: lama5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.722 LAMA5 Zornitza Stark Classified gene: LAMA5 as Amber List (moderate evidence)
Mendeliome v0.722 LAMA5 Zornitza Stark Gene: lama5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.721 TNS2 Zornitza Stark Gene: tns2 has been classified as Green List (High Evidence).
Mendeliome v0.721 TNS2 Zornitza Stark Classified gene: TNS2 as Green List (high evidence)
Mendeliome v0.721 TNS2 Zornitza Stark Gene: tns2 has been classified as Green List (High Evidence).
Mendeliome v0.719 XPO5 Zornitza Stark Classified gene: XPO5 as Red List (low evidence)
Mendeliome v0.719 XPO5 Zornitza Stark Gene: xpo5 has been classified as Red List (Low Evidence).
Mendeliome v0.718 DNASE2 Zornitza Stark Gene: dnase2 has been classified as Green List (High Evidence).
Mendeliome v0.718 DNASE2 Zornitza Stark Classified gene: DNASE2 as Green List (high evidence)
Mendeliome v0.718 DNASE2 Zornitza Stark Gene: dnase2 has been classified as Green List (High Evidence).
Mendeliome v0.717 DNASE2 Zornitza Stark gene: DNASE2 was added
gene: DNASE2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: DNASE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNASE2 were set to 29259162; 31775019
Phenotypes for gene: DNASE2 were set to Auto-inflammatory disorder; splenomegaly; glomerulonephritis; liver fibrosis; arthritis; HLH
Review for gene: DNASE2 was set to GREEN
Added comment: Inflammatory disorder characterized by splenomegaly, glomerulonephritis, liver fibrosis, circulating anti-DNA autoantibodies, and progressive arthritis. Three families and functional data.
Sources: Expert list
Mendeliome v0.716 IGHM Zornitza Stark Gene: ighm has been classified as Green List (High Evidence).
Mendeliome v0.716 IGHM Zornitza Stark Classified gene: IGHM as Green List (high evidence)
Mendeliome v0.716 IGHM Zornitza Stark Gene: ighm has been classified as Green List (High Evidence).
Mendeliome v0.714 ANGPTL6 Zornitza Stark Gene: angptl6 has been classified as Red List (Low Evidence).
Mendeliome v0.711 ANGPTL6 Zornitza Stark Classified gene: ANGPTL6 as Red List (low evidence)
Mendeliome v0.711 ANGPTL6 Zornitza Stark Gene: angptl6 has been classified as Red List (Low Evidence).
Mendeliome v0.710 NUP214 Sue White Classified gene: NUP214 as Green List (high evidence)
Mendeliome v0.710 NUP214 Sue White Gene: nup214 has been classified as Green List (High Evidence).
Mendeliome v0.709 NUP214 Sue White gene: NUP214 was added
gene: NUP214 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP214 were set to 31178128
Phenotypes for gene: NUP214 were set to epileptic encephalopathy; developmental regression; microcephaly
Penetrance for gene: NUP214 were set to Complete
Review for gene: NUP214 was set to GREEN
gene: NUP214 was marked as current diagnostic
Added comment: Sources: Literature
Mendeliome v0.708 ATP2B2 Sue White Classified gene: ATP2B2 as Green List (high evidence)
Mendeliome v0.708 ATP2B2 Sue White Gene: atp2b2 has been classified as Green List (High Evidence).
Mendeliome v0.707 ATP2B2 Sue White gene: ATP2B2 was added
gene: ATP2B2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP2B2 were set to progressive sensorineural deafness
Penetrance for gene: ATP2B2 were set to unknown
Review for gene: ATP2B2 was set to GREEN
gene: ATP2B2 was marked as current diagnostic
Added comment: Sources: Literature
Mendeliome v0.706 NPM1 Sue White Gene: npm1 has been classified as Green List (High Evidence).
Mendeliome v0.706 NPM1 Sue White Classified gene: NPM1 as Green List (high evidence)
Mendeliome v0.706 NPM1 Sue White Gene: npm1 has been classified as Green List (High Evidence).
Mendeliome v0.705 NPM1 Sue White gene: NPM1 was added
gene: NPM1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NPM1 were set to 31570891
Phenotypes for gene: NPM1 were set to radial ray defects; short stature; nail dsytrophy; bone marrow failure
Penetrance for gene: NPM1 were set to unknown
Review for gene: NPM1 was set to GREEN
Added comment: heterozygous variants cause dyskeratosis congenita
Sources: Literature
Mendeliome v0.704 AP2M1 Zornitza Stark Gene: ap2m1 has been classified as Green List (High Evidence).
Mendeliome v0.704 AP2M1 Zornitza Stark Classified gene: AP2M1 as Green List (high evidence)
Mendeliome v0.704 AP2M1 Zornitza Stark Gene: ap2m1 has been classified as Green List (High Evidence).
Mendeliome v0.702 ALKBH8 Zornitza Stark Classified gene: ALKBH8 as Amber List (moderate evidence)
Mendeliome v0.702 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.701 ASXL3 Zornitza Stark Gene: asxl3 has been classified as Green List (High Evidence).
Mendeliome v0.698 RHOA Sue White Gene: rhoa has been classified as Green List (High Evidence).
Mendeliome v0.698 RHOA Sue White Classified gene: RHOA as Green List (high evidence)
Mendeliome v0.698 RHOA Sue White Gene: rhoa has been classified as Green List (High Evidence).
Mendeliome v0.697 RHOA Sue White gene: RHOA was added
gene: RHOA was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: RHOA was set to Other
Publications for gene: RHOA were set to 31570889
Phenotypes for gene: RHOA were set to normal cognition; leukoencephalopathy; micro-ophthalmia; strabismus; linear hypopigmentation; malar hypoplasia; downslanting palpebral fissures; microstomia
Penetrance for gene: RHOA were set to Complete
Review for gene: RHOA was set to GREEN
gene: RHOA was marked as current diagnostic
Added comment: mosaic heterozygous missense variants cause linear hypopigmentation, brain MRI changes with normal cognition, ocular and acral changes
Sources: Literature
Mendeliome v0.696 TNFRSF1A Zornitza Stark Gene: tnfrsf1a has been classified as Green List (High Evidence).
Mendeliome v0.693 SEPT9 Zornitza Stark Gene: sept9 has been classified as Green List (High Evidence).
Mendeliome v0.692 PUS10 Zornitza Stark Gene: pus10 has been classified as Red List (Low Evidence).
Mendeliome v0.692 PUS10 Zornitza Stark Classified gene: PUS10 as Red List (low evidence)
Mendeliome v0.692 PUS10 Zornitza Stark Gene: pus10 has been classified as Red List (Low Evidence).
Mendeliome v0.691 DNMT3A Zornitza Stark Gene: dnmt3a has been classified as Green List (High Evidence).
Mendeliome v0.685 TRIM28 Zornitza Stark Gene: trim28 has been classified as Green List (High Evidence).
Mendeliome v0.685 TRIM28 Zornitza Stark Classified gene: TRIM28 as Green List (high evidence)
Mendeliome v0.685 TRIM28 Zornitza Stark Gene: trim28 has been classified as Green List (High Evidence).
Mendeliome v0.684 TRIM28 Zornitza Stark gene: TRIM28 was added
gene: TRIM28 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: TRIM28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIM28 were set to 30694527
Phenotypes for gene: TRIM28 were set to Wilm's tumour
Review for gene: TRIM28 was set to GREEN
Added comment: Eleven individuals with germline variants identified; plus one somatic. Exome sequencing on eight tumor DNA samples from six individuals showed loss-of-heterozygosity (LOH) of the TRIM28-locus by mitotic recombination in seven tumors, suggesting that TRIM28 functions as a tumor suppressor gene in Wilms tumor development.
Sources: Literature
Mendeliome v0.683 YY1AP1 Zornitza Stark Gene: yy1ap1 has been classified as Green List (High Evidence).
Mendeliome v0.683 YY1AP1 Zornitza Stark Phenotypes for gene: YY1AP1 were changed from to Grange syndrome, MIM# 602531; stenosis/occlusion of multiple arteries
Mendeliome v0.681 YY1AP1 Zornitza Stark reviewed gene: YY1AP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Grange syndrome, MIM# 602531, stenosis/occlusion of multiple arteries; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.681 CBWD1 Zornitza Stark Gene: cbwd1 has been classified as Red List (Low Evidence).
Mendeliome v0.681 CBWD1 Zornitza Stark gene: CBWD1 was added
gene: CBWD1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: CBWD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBWD1 were set to 31862704
Phenotypes for gene: CBWD1 were set to CAKUT
Review for gene: CBWD1 was set to RED
Added comment: A pair of siblings with homozygous deletion in this gene reported; functional data including animal model.
Sources: Literature
Mendeliome v0.680 DEF6 Zornitza Stark Gene: def6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.680 DEF6 Zornitza Stark Classified gene: DEF6 as Amber List (moderate evidence)
Mendeliome v0.680 DEF6 Zornitza Stark Gene: def6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.678 SLC2A8 Zornitza Stark Gene: slc2a8 has been classified as Red List (Low Evidence).
Mendeliome v0.678 SLC2A8 Zornitza Stark Classified gene: SLC2A8 as Red List (low evidence)
Mendeliome v0.678 SLC2A8 Zornitza Stark Gene: slc2a8 has been classified as Red List (Low Evidence).
Mendeliome v0.677 SETD5 Zornitza Stark Added comment: Comment when marking as ready: PMID: 29484850: Review of all literature reporting SETD5 (table 1). Out of 42 patients described in these papers, 71.4% have motor impairment/delay, 69.0% speech impairment/delay, 23.8% eplilepsy/seizures, 38% congenital heart defects, 95.2% facial dysmorphism, 21.4% hand stereotypies/ritualised behaviour, 19% impaired vision, 42.8% muscle hypotonia and 28.6% polydactyly.
Mendeliome v0.677 SETD5 Zornitza Stark Gene: setd5 has been classified as Green List (High Evidence).
Mendeliome v0.674 ACTG2 Zornitza Stark Gene: actg2 has been classified as Green List (High Evidence).
Mendeliome v0.672 C19orf70 Zornitza Stark Gene: c19orf70 has been classified as Green List (High Evidence).
Mendeliome v0.672 C19orf70 Zornitza Stark Classified gene: C19orf70 as Green List (high evidence)
Mendeliome v0.672 C19orf70 Zornitza Stark Gene: c19orf70 has been classified as Green List (High Evidence).
Mendeliome v0.670 MIPEP Zornitza Stark Gene: mipep has been classified as Green List (High Evidence).
Mendeliome v0.670 MIPEP Zornitza Stark Classified gene: MIPEP as Green List (high evidence)
Mendeliome v0.670 MIPEP Zornitza Stark Gene: mipep has been classified as Green List (High Evidence).
Mendeliome v0.668 MRPS14 Zornitza Stark gene: MRPS14 was added
gene: MRPS14 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: MRPS14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS14 were set to 30358850
Phenotypes for gene: MRPS14 were set to Combined oxidative phosphorylation deficiency 38, MIM# 618378
Review for gene: MRPS14 was set to RED
Added comment: Single individual reported, functional data.
Sources: Expert list
Mendeliome v0.667 PLEKHG2 Zornitza Stark Gene: plekhg2 has been classified as Red List (Low Evidence).
Mendeliome v0.666 UFM1 Zornitza Stark Gene: ufm1 has been classified as Green List (High Evidence).
Mendeliome v0.663 HIKESHI Zornitza Stark Gene: hikeshi has been classified as Green List (High Evidence).
Mendeliome v0.660 AIMP2 Zornitza Stark gene: AIMP2 was added
gene: AIMP2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: AIMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AIMP2 were set to 29215095
Phenotypes for gene: AIMP2 were set to Leukodystrophy, hypomyelinating, 17 618006
Review for gene: AIMP2 was set to RED
Added comment: Two apparently unrelated consanguineous families, however same homozygous variant identified in both. Affected individuals had early-onset multifocal seizures, spasticity, poor overall growth, and microcephaly (up to -10 SD). Brain imaging showed multiple abnormalities, including cerebral and cerebellar atrophy, thin corpus callosum, abnormal signals in the basal ganglia, and features suggesting hypo- or demyelination
Sources: Expert list
Mendeliome v0.659 TMEM63A Zornitza Stark Gene: tmem63a has been classified as Green List (High Evidence).
Mendeliome v0.659 TMEM63A Zornitza Stark Classified gene: TMEM63A as Green List (high evidence)
Mendeliome v0.659 TMEM63A Zornitza Stark Gene: tmem63a has been classified as Green List (High Evidence).
Mendeliome v0.658 TMEM63A Zornitza Stark gene: TMEM63A was added
gene: TMEM63A was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: TMEM63A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM63A were set to 31587869
Phenotypes for gene: TMEM63A were set to Leukodystrophy, hypomyelinating, 19, transient infantile, MIM# 618688
Review for gene: TMEM63A was set to GREEN
Added comment: Four unrelated families reported; in three individuals, the variant was de novo, and inherited from a deceased parent in the fourth.
Sources: Expert list
Mendeliome v0.654 FZD3 Zornitza Stark Gene: fzd3 has been classified as Red List (Low Evidence).
Mendeliome v0.654 FZD3 Zornitza Stark Classified gene: FZD3 as Red List (low evidence)
Mendeliome v0.654 FZD3 Zornitza Stark Gene: fzd3 has been classified as Red List (Low Evidence).
Mendeliome v0.653 H3F3B Zornitza Stark Classified gene: H3F3B as Amber List (moderate evidence)
Mendeliome v0.653 H3F3B Zornitza Stark Gene: h3f3b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.652 H3F3A Zornitza Stark Gene: h3f3a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.652 H3F3A Zornitza Stark Classified gene: H3F3A as Amber List (moderate evidence)
Mendeliome v0.652 H3F3A Zornitza Stark Gene: h3f3a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.651 KAT5 Zornitza Stark Gene: kat5 has been classified as Red List (Low Evidence).
Mendeliome v0.651 KAT5 Zornitza Stark Classified gene: KAT5 as Red List (low evidence)
Mendeliome v0.651 KAT5 Zornitza Stark Gene: kat5 has been classified as Red List (Low Evidence).
Mendeliome v0.650 ROBO4 Zornitza Stark Gene: robo4 has been classified as Green List (High Evidence).
Mendeliome v0.650 ROBO4 Zornitza Stark Classified gene: ROBO4 as Green List (high evidence)
Mendeliome v0.650 ROBO4 Zornitza Stark Gene: robo4 has been classified as Green List (High Evidence).
Mendeliome v0.648 MYMK Zornitza Stark Gene: mymk has been classified as Green List (High Evidence).
Mendeliome v0.648 MYMK Zornitza Stark Classified gene: MYMK as Green List (high evidence)
Mendeliome v0.648 MYMK Zornitza Stark Gene: mymk has been classified as Green List (High Evidence).
Mendeliome v0.646 EDC3 Zornitza Stark Gene: edc3 has been classified as Red List (Low Evidence).
Mendeliome v0.646 EDC3 Zornitza Stark gene: EDC3 was added
gene: EDC3 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: EDC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EDC3 were set to 29685133; 25701870
Phenotypes for gene: EDC3 were set to Mental retardation, autosomal recessive 50, MIM# 616460
Review for gene: EDC3 was set to RED
Added comment: Single family reported; some functional data.
Sources: Expert list
Mendeliome v0.645 PUS3 Zornitza Stark reviewed gene: PUS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30308082, 28454995, 27055666, 30697592, 31444731; Phenotypes: Mental retardation, autosomal recessive 55, MIM# 617051; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.645 EIF3F Zornitza Stark Gene: eif3f has been classified as Green List (High Evidence).
Mendeliome v0.645 EIF3F Zornitza Stark Classified gene: EIF3F as Green List (high evidence)
Mendeliome v0.645 EIF3F Zornitza Stark Gene: eif3f has been classified as Green List (High Evidence).
Mendeliome v0.644 EIF3F Zornitza Stark gene: EIF3F was added
gene: EIF3F was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF3F were set to 30409806
Phenotypes for gene: EIF3F were set to Mental retardation, autosomal recessive 67, MIM# 618295
Review for gene: EIF3F was set to GREEN
Added comment: Nine individuals from 7 families reported, all homozygous for the same missense variant, p.(Phe232Val). This variant is present at 0.12% frequency in non-Finnish Europeans in gnomad (no homozygotes).
Sources: Expert list
Mendeliome v0.643 RUSC2 Zornitza Stark Gene: rusc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.643 RUSC2 Zornitza Stark Phenotypes for gene: RUSC2 were changed from to Mental retardation, autosomal recessive 61, MIM# 617773
Mendeliome v0.640 RUSC2 Zornitza Stark Classified gene: RUSC2 as Amber List (moderate evidence)
Mendeliome v0.640 RUSC2 Zornitza Stark Gene: rusc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.639 RUSC2 Zornitza Stark reviewed gene: RUSC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27612186; Phenotypes: Mental retardation, autosomal recessive 61, MIM# 617773; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.639 RSRC1 Zornitza Stark Gene: rsrc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.639 RSRC1 Zornitza Stark Classified gene: RSRC1 as Amber List (moderate evidence)
Mendeliome v0.639 RSRC1 Zornitza Stark Gene: rsrc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.638 RSRC1 Zornitza Stark gene: RSRC1 was added
gene: RSRC1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: RSRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RSRC1 were set to 28640246; 29522154
Phenotypes for gene: RSRC1 were set to Intellectual developmental disorder, autosomal recessive 70, MIM# 618402
Review for gene: RSRC1 was set to AMBER
Added comment: Two unrelated families reported, 8 affected individuals.
Sources: Expert list
Mendeliome v0.637 METTL5 Zornitza Stark Gene: mettl5 has been classified as Green List (High Evidence).
Mendeliome v0.637 METTL5 Zornitza Stark Classified gene: METTL5 as Green List (high evidence)
Mendeliome v0.637 METTL5 Zornitza Stark Gene: mettl5 has been classified as Green List (High Evidence).
Mendeliome v0.636 METTL5 Zornitza Stark gene: METTL5 was added
gene: METTL5 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: METTL5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: METTL5 were set to 29302074; 31564433
Phenotypes for gene: METTL5 were set to Intellectual developmental disorder, autosomal recessive 72, MIM# 618665
Review for gene: METTL5 was set to GREEN
Added comment: Three unrelated families and animal model.
Sources: Expert list
Mendeliome v0.635 CXorf56 Zornitza Stark Gene: cxorf56 has been classified as Red List (Low Evidence).
Mendeliome v0.635 CXorf56 Zornitza Stark gene: CXorf56 was added
gene: CXorf56 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: CXorf56 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CXorf56 were set to 29374277
Phenotypes for gene: CXorf56 were set to Mental retardation, X-linked 107, MIM# 301013
Review for gene: CXorf56 was set to RED
Added comment: Single multigenerational family reported.
Sources: Expert list
Mendeliome v0.634 USP27X Zornitza Stark Gene: usp27x has been classified as Amber List (Moderate Evidence).
Mendeliome v0.634 USP27X Zornitza Stark Classified gene: USP27X as Amber List (moderate evidence)
Mendeliome v0.634 USP27X Zornitza Stark Gene: usp27x has been classified as Amber List (Moderate Evidence).
Mendeliome v0.632 KLHL15 Zornitza Stark Gene: klhl15 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.632 KLHL15 Zornitza Stark Classified gene: KLHL15 as Amber List (moderate evidence)
Mendeliome v0.632 KLHL15 Zornitza Stark Gene: klhl15 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.630 ODC1 Zornitza Stark Gene: odc1 has been classified as Green List (High Evidence).
Mendeliome v0.630 ODC1 Zornitza Stark Classified gene: ODC1 as Green List (high evidence)
Mendeliome v0.630 ODC1 Zornitza Stark Gene: odc1 has been classified as Green List (High Evidence).
Mendeliome v0.628 RPIA Zornitza Stark Gene: rpia has been classified as Green List (High Evidence).
Mendeliome v0.625 TRPM3 Zornitza Stark Gene: trpm3 has been classified as Green List (High Evidence).
Mendeliome v0.625 TRPM3 Zornitza Stark Classified gene: TRPM3 as Green List (high evidence)
Mendeliome v0.625 TRPM3 Zornitza Stark Gene: trpm3 has been classified as Green List (High Evidence).
Mendeliome v0.623 NUS1 Zornitza Stark Gene: nus1 has been classified as Green List (High Evidence).
Mendeliome v0.620 UGP2 Zornitza Stark Gene: ugp2 has been classified as Green List (High Evidence).
Mendeliome v0.620 UGP2 Zornitza Stark Classified gene: UGP2 as Green List (high evidence)
Mendeliome v0.620 UGP2 Zornitza Stark Gene: ugp2 has been classified as Green List (High Evidence).
Mendeliome v0.618 ADRA2B Zornitza Stark Gene: adra2b has been classified as Red List (Low Evidence).
Mendeliome v0.617 ADRA2B Zornitza Stark Classified gene: ADRA2B as Red List (low evidence)
Mendeliome v0.617 ADRA2B Zornitza Stark Gene: adra2b has been classified as Red List (Low Evidence).
Mendeliome v0.616 AGO3 Zornitza Stark Gene: ago3 has been classified as Red List (Low Evidence).
Mendeliome v0.615 AGO3 Zornitza Stark Gene: ago3 has been classified as Red List (Low Evidence).
Mendeliome v0.612 AGO3 Zornitza Stark Classified gene: AGO3 as Red List (low evidence)
Mendeliome v0.612 AGO3 Zornitza Stark Gene: ago3 has been classified as Red List (Low Evidence).
Mendeliome v0.611 PIGP Zornitza Stark Gene: pigp has been classified as Amber List (Moderate Evidence).
Mendeliome v0.611 PIGP Zornitza Stark Classified gene: PIGP as Amber List (moderate evidence)
Mendeliome v0.611 PIGP Zornitza Stark Gene: pigp has been classified as Amber List (Moderate Evidence).
Mendeliome v0.609 NEUROD2 Zornitza Stark Gene: neurod2 has been classified as Green List (High Evidence).
Mendeliome v0.609 NEUROD2 Zornitza Stark Classified gene: NEUROD2 as Green List (high evidence)
Mendeliome v0.609 NEUROD2 Zornitza Stark Gene: neurod2 has been classified as Green List (High Evidence).
Mendeliome v0.607 GOT2 Zornitza Stark Gene: got2 has been classified as Green List (High Evidence).
Mendeliome v0.607 GOT2 Zornitza Stark Classified gene: GOT2 as Green List (high evidence)
Mendeliome v0.607 GOT2 Zornitza Stark Gene: got2 has been classified as Green List (High Evidence).
Mendeliome v0.605 GLIS2 Zornitza Stark Gene: glis2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.602 GLIS2 Zornitza Stark Phenotypes for gene: GLIS2 were changed from to Nephronophthisis 7, OMIM#611498
Mendeliome v0.601 GLIS2 Zornitza Stark Classified gene: GLIS2 as Amber List (moderate evidence)
Mendeliome v0.601 GLIS2 Zornitza Stark Gene: glis2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.600 GLIS2 Zornitza Stark reviewed gene: GLIS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 17618285, 23559409; Phenotypes: Nephronophthisis 7, OMIM#611498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.600 IFT57 Zornitza Stark Gene: ift57 has been classified as Red List (Low Evidence).
Mendeliome v0.597 IFT57 Zornitza Stark Classified gene: IFT57 as Red List (low evidence)
Mendeliome v0.597 IFT57 Zornitza Stark Gene: ift57 has been classified as Red List (Low Evidence).
Mendeliome v0.596 IFT74 Zornitza Stark Gene: ift74 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.596 IFT74 Zornitza Stark Classified gene: IFT74 as Amber List (moderate evidence)
Mendeliome v0.596 IFT74 Zornitza Stark Gene: ift74 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.595 IFT74 Zornitza Stark gene: IFT74 was added
gene: IFT74 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT74 were set to 27486776
Phenotypes for gene: IFT74 were set to Bardet-Biedl syndrome 20, MIM# 617119
Review for gene: IFT74 was set to AMBER
Added comment: Single family and functional data.
Sources: Expert list
Mendeliome v0.594 IFT81 Zornitza Stark Added comment: Comment when marking as ready: Three families with skeletal dysplasia, one with nephronophthisis, one with eye phenotype.
Mendeliome v0.594 IFT81 Zornitza Stark Gene: ift81 has been classified as Green List (High Evidence).
Mendeliome v0.594 IFT81 Zornitza Stark Phenotypes for gene: IFT81 were changed from to Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895
Mendeliome v0.591 IFT81 Zornitza Stark Classified gene: IFT81 as Green List (high evidence)
Mendeliome v0.591 IFT81 Zornitza Stark Gene: ift81 has been classified as Green List (High Evidence).
Mendeliome v0.589 IFT81 Zornitza Stark Classified gene: IFT81 as Amber List (moderate evidence)
Mendeliome v0.589 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.588 IFT81 Zornitza Stark reviewed gene: IFT81: Rating: AMBER; Mode of pathogenicity: None; Publications: 27666822; Phenotypes: Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.588 PDE6D Zornitza Stark Gene: pde6d has been classified as Amber List (Moderate Evidence).
Mendeliome v0.586 PDE6D Zornitza Stark Classified gene: PDE6D as Amber List (moderate evidence)
Mendeliome v0.586 PDE6D Zornitza Stark Gene: pde6d has been classified as Amber List (Moderate Evidence).
Mendeliome v0.582 PDE6D Zornitza Stark Classified gene: PDE6D as Red List (low evidence)
Mendeliome v0.582 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Mendeliome v0.581 SLC41A1 Zornitza Stark Gene: slc41a1 has been classified as Red List (Low Evidence).
Mendeliome v0.581 SLC41A1 Zornitza Stark Phenotypes for gene: SLC41A1 were changed from to Nephronophthisis
Mendeliome v0.578 SLC41A1 Zornitza Stark Classified gene: SLC41A1 as Red List (low evidence)
Mendeliome v0.578 SLC41A1 Zornitza Stark Gene: slc41a1 has been classified as Red List (Low Evidence).
Mendeliome v0.577 SLC41A1 Zornitza Stark reviewed gene: SLC41A1: Rating: RED; Mode of pathogenicity: None; Publications: 23661805; Phenotypes: Nephronophthisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.577 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Mendeliome v0.577 XPNPEP3 Zornitza Stark Phenotypes for gene: XPNPEP3 were changed from to Nephronophthisis-like nephropathy 1, OMIM #613159
Mendeliome v0.574 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Red List (low evidence)
Mendeliome v0.574 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Mendeliome v0.573 XPNPEP3 Zornitza Stark reviewed gene: XPNPEP3: Rating: RED; Mode of pathogenicity: None; Publications: 20179356; Phenotypes: Nephronophthisis-like nephropathy 1, OMIM #613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.573 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Mendeliome v0.570 ZNF423 Zornitza Stark Classified gene: ZNF423 as Red List (low evidence)
Mendeliome v0.570 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Mendeliome v0.569 PIGQ Zornitza Stark Gene: pigq has been classified as Green List (High Evidence).
Mendeliome v0.569 PIGQ Zornitza Stark Classified gene: PIGQ as Green List (high evidence)
Mendeliome v0.569 PIGQ Zornitza Stark Gene: pigq has been classified as Green List (High Evidence).
Mendeliome v0.567 NTRK2 Zornitza Stark Gene: ntrk2 has been classified as Green List (High Evidence).
Mendeliome v0.567 NTRK2 Zornitza Stark Phenotypes for gene: NTRK2 were changed from to Epileptic encephalopathy, early infantile, 58, MIM# 617830; Obesity, hyperphagia, and developmental delay, MIM# 613886
Mendeliome v0.565 NTRK2 Zornitza Stark reviewed gene: NTRK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100083, 15494731, 27884935, 29100083; Phenotypes: Epileptic encephalopathy, early infantile, 58, MIM# 617830, Obesity, hyperphagia, and developmental delay, MIM# 613886; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.564 PHACTR1 Zornitza Stark Gene: phactr1 has been classified as Green List (High Evidence).
Mendeliome v0.564 PHACTR1 Zornitza Stark Classified gene: PHACTR1 as Green List (high evidence)
Mendeliome v0.564 PHACTR1 Zornitza Stark Gene: phactr1 has been classified as Green List (High Evidence).
Mendeliome v0.562 GABRB1 Zornitza Stark Gene: gabrb1 has been classified as Green List (High Evidence).
Mendeliome v0.562 GABRB1 Zornitza Stark Classified gene: GABRB1 as Green List (high evidence)
Mendeliome v0.562 GABRB1 Zornitza Stark Gene: gabrb1 has been classified as Green List (High Evidence).
Mendeliome v0.560 GABRA2 Zornitza Stark Gene: gabra2 has been classified as Green List (High Evidence).
Mendeliome v0.557 GUF1 Zornitza Stark Gene: guf1 has been classified as Red List (Low Evidence).
Mendeliome v0.557 GUF1 Zornitza Stark gene: GUF1 was added
gene: GUF1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: GUF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GUF1 were set to 26486472
Phenotypes for gene: GUF1 were set to Epileptic encephalopathy, early infantile, 40, MIM# 617065
Review for gene: GUF1 was set to RED
Added comment: Single family reported with homozygous missense in three sibs.
Sources: Expert list
Mendeliome v0.556 CPLX1 Zornitza Stark Gene: cplx1 has been classified as Green List (High Evidence).
Mendeliome v0.556 CPLX1 Zornitza Stark Classified gene: CPLX1 as Green List (high evidence)
Mendeliome v0.556 CPLX1 Zornitza Stark Gene: cplx1 has been classified as Green List (High Evidence).
Mendeliome v0.554 RNF13 Zornitza Stark Gene: rnf13 has been classified as Green List (High Evidence).
Mendeliome v0.554 RNF13 Zornitza Stark Classified gene: RNF13 as Green List (high evidence)
Mendeliome v0.554 RNF13 Zornitza Stark Gene: rnf13 has been classified as Green List (High Evidence).
Mendeliome v0.552 GLS Zornitza Stark Gene: gls has been classified as Green List (High Evidence).
Mendeliome v0.552 GLS Zornitza Stark Classified gene: GLS as Green List (high evidence)
Mendeliome v0.552 GLS Zornitza Stark Gene: gls has been classified as Green List (High Evidence).
Mendeliome v0.551 GLS Zornitza Stark gene: GLS was added
gene: GLS was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLS were set to 30575854; 30970188
Phenotypes for gene: GLS were set to Epileptic encephalopathy, early infantile, 71, MIM# 618328; Global developmental delay, progressive ataxia, and elevated glutamine, MIM# 618412
Review for gene: GLS was set to GREEN
Added comment: Three individuals from two unrelated families reported with early neonatal refractory seizures, structural brain abnormalities and oedema; significantly increased glutamine levels (PMID: 30575854).

Another three unrelated individuals described with compound het variants, one of which is a triplet expansion in the 5' UTR (PMID: 30970188).
Sources: Expert list
Mendeliome v0.550 CAD Zornitza Stark Gene: cad has been classified as Green List (High Evidence).
Mendeliome v0.550 CAD Zornitza Stark Classified gene: CAD as Green List (high evidence)
Mendeliome v0.550 CAD Zornitza Stark Gene: cad has been classified as Green List (High Evidence).
Mendeliome v0.549 CAD Zornitza Stark gene: CAD was added
gene: CAD was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAD were set to 28007989; 25678555
Phenotypes for gene: CAD were set to Epileptic encephalopathy, early infantile, 50, MIM# 616457
Review for gene: CAD was set to GREEN
Added comment: Five individuals from four unrelated families reported, seizures are a prominent part of the phenotype of this progressive neurometabolic condition.
Sources: Expert list
Mendeliome v0.548 PARS2 Zornitza Stark Gene: pars2 has been classified as Green List (High Evidence).
Mendeliome v0.545 CHRNA3 Zornitza Stark Gene: chrna3 has been classified as Green List (High Evidence).
Mendeliome v0.542 NADSYN1 Zornitza Stark Gene: nadsyn1 has been classified as Green List (High Evidence).
Mendeliome v0.542 NADSYN1 Zornitza Stark Classified gene: NADSYN1 as Green List (high evidence)
Mendeliome v0.542 NADSYN1 Zornitza Stark Gene: nadsyn1 has been classified as Green List (High Evidence).
Mendeliome v0.540 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Green List (High Evidence).
Mendeliome v0.537 UQCRFS1 Zornitza Stark Gene: uqcrfs1 has been classified as Green List (High Evidence).
Mendeliome v0.537 UQCRFS1 Zornitza Stark Classified gene: UQCRFS1 as Green List (high evidence)
Mendeliome v0.537 UQCRFS1 Zornitza Stark Gene: uqcrfs1 has been classified as Green List (High Evidence).
Mendeliome v0.536 UQCRFS1 Zornitza Stark gene: UQCRFS1 was added
gene: UQCRFS1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: UQCRFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCRFS1 were set to 31883641
Phenotypes for gene: UQCRFS1 were set to Mitochondrial Complex III deficiency; lactic acidosis; fetal bradycardia; hypertrophic cardiomyopathy; alopecia totalis
Review for gene: UQCRFS1 was set to GREEN
Added comment: Two unrelated families reported plus functional evidence.
Sources: Literature
Mendeliome v0.535 SPATC1L Zornitza Stark Gene: spatc1l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.535 SPATC1L Zornitza Stark Classified gene: SPATC1L as Amber List (moderate evidence)
Mendeliome v0.535 SPATC1L Zornitza Stark Gene: spatc1l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.533 WBP2 Zornitza Stark Gene: wbp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.533 WBP2 Zornitza Stark Classified gene: WBP2 as Amber List (moderate evidence)
Mendeliome v0.533 WBP2 Zornitza Stark Gene: wbp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.532 WBP2 Zornitza Stark gene: WBP2 was added
gene: WBP2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: WBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WBP2 were set to 26881968
Phenotypes for gene: WBP2 were set to Deafness, autosomal recessive 107, MIM# 617639
Review for gene: WBP2 was set to AMBER
Added comment: Two unrelated families identified in a large cohort; supportive animal model data.
Sources: Expert list
Mendeliome v0.531 TMEM132E Zornitza Stark Gene: tmem132e has been classified as Amber List (Moderate Evidence).
Mendeliome v0.531 TMEM132E Zornitza Stark Classified gene: TMEM132E as Amber List (moderate evidence)
Mendeliome v0.531 TMEM132E Zornitza Stark Gene: tmem132e has been classified as Amber List (Moderate Evidence).
Mendeliome v0.530 TMEM132E Zornitza Stark gene: TMEM132E was added
gene: TMEM132E was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: TMEM132E was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM132E were set to 25331638
Phenotypes for gene: TMEM132E were set to Deafness, autosomal recessive 99, MIM# 618481
Review for gene: TMEM132E was set to AMBER
Added comment: Single family reported, supportive animal model.
Sources: Expert list
Mendeliome v0.529 GRAP Zornitza Stark Gene: grap has been classified as Red List (Low Evidence).
Mendeliome v0.529 GRAP Zornitza Stark gene: GRAP was added
gene: GRAP was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: GRAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRAP were set to 30610177
Phenotypes for gene: GRAP were set to Deafness, autosomal recessive 114, MIM# 618456
Review for gene: GRAP was set to RED
Added comment: Two apparently unrelated Turkish families reported, however same homozygous missense variant, and SNP analysis indicated identity by descent.
Sources: Expert list
Mendeliome v0.528 SPNS2 Zornitza Stark Gene: spns2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.528 SPNS2 Zornitza Stark Classified gene: SPNS2 as Amber List (moderate evidence)
Mendeliome v0.528 SPNS2 Zornitza Stark Gene: spns2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.527 SPNS2 Zornitza Stark gene: SPNS2 was added
gene: SPNS2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: SPNS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPNS2 were set to 25356849
Phenotypes for gene: SPNS2 were set to Deafness, autosomal recessive 115, MIM# 618457
Review for gene: SPNS2 was set to AMBER
Added comment: Single family reported, mouse model shows progressive hearing loss.
Sources: Expert list
Mendeliome v0.526 ESRP1 Zornitza Stark Gene: esrp1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.526 ESRP1 Zornitza Stark Classified gene: ESRP1 as Amber List (moderate evidence)
Mendeliome v0.526 ESRP1 Zornitza Stark Gene: esrp1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.525 ESRP1 Zornitza Stark gene: ESRP1 was added
gene: ESRP1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: ESRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESRP1 were set to 29107558
Phenotypes for gene: ESRP1 were set to Deafness, autosomal recessive 109, MIM# 618013
Review for gene: ESRP1 was set to AMBER
Added comment: Single family with affected sibs, mouse model.
Sources: Expert list
Mendeliome v0.524 SLC26A5 Zornitza Stark Gene: slc26a5 has been classified as Red List (Low Evidence).
Mendeliome v0.524 SLC26A5 Zornitza Stark Phenotypes for gene: SLC26A5 were changed from to Deafness, autosomal recessive 61, MIM# 613865
Mendeliome v0.521 SLC26A5 Zornitza Stark Classified gene: SLC26A5 as Red List (low evidence)
Mendeliome v0.521 SLC26A5 Zornitza Stark Gene: slc26a5 has been classified as Red List (Low Evidence).
Mendeliome v0.520 SLC26A5 Zornitza Stark reviewed gene: SLC26A5: Rating: RED; Mode of pathogenicity: None; Publications: 24164807; Phenotypes: Deafness, autosomal recessive 61, MIM# 613865; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.520 PPIP5K2 Zornitza Stark Gene: ppip5k2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.520 PPIP5K2 Zornitza Stark Classified gene: PPIP5K2 as Amber List (moderate evidence)
Mendeliome v0.520 PPIP5K2 Zornitza Stark Gene: ppip5k2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.519 PPIP5K2 Zornitza Stark gene: PPIP5K2 was added
gene: PPIP5K2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: PPIP5K2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIP5K2 were set to 29590114
Phenotypes for gene: PPIP5K2 were set to Deafness, autosomal recessive 100, MIM# 618422
Review for gene: PPIP5K2 was set to AMBER
Added comment: Two apparently unrelated families with multiple affecteds segregating a homozygous missense variant; mouse model.
Sources: Expert list
Mendeliome v0.518 ROR1 Zornitza Stark Gene: ror1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.518 ROR1 Zornitza Stark Classified gene: ROR1 as Amber List (moderate evidence)
Mendeliome v0.518 ROR1 Zornitza Stark Gene: ror1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.517 ROR1 Zornitza Stark gene: ROR1 was added
gene: ROR1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: ROR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ROR1 were set to 27162350
Phenotypes for gene: ROR1 were set to Deafness, autosomal recessive 108, MIM# 617654
Review for gene: ROR1 was set to AMBER
Added comment: Single family, sibs with homozygous missense variant; mouse model.
Sources: Expert list
Mendeliome v0.516 RIPOR2 Zornitza Stark Gene: ripor2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.516 RIPOR2 Zornitza Stark Classified gene: RIPOR2 as Amber List (moderate evidence)
Mendeliome v0.516 RIPOR2 Zornitza Stark Gene: ripor2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.515 RIPOR2 Zornitza Stark gene: RIPOR2 was added
gene: RIPOR2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: RIPOR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIPOR2 were set to 24958875
Phenotypes for gene: RIPOR2 were set to Deafness, autosomal recessive 104, MIM# 616515
Review for gene: RIPOR2 was set to AMBER
Added comment: Single family and animal model data.
Sources: Expert list
Mendeliome v0.514 PROC Zornitza Stark Gene: proc has been classified as Green List (High Evidence).
Mendeliome v0.514 PROC Zornitza Stark Phenotypes for gene: PROC were changed from to Thrombophilia due to protein C deficiency, autosomal dominant (176860); Thrombophilia due to protein C deficiency, autosomal recessive (612304)
Mendeliome v0.512 PROC Chris Richmond reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: None; Publications: 22545135, 30925296; Phenotypes: Thrombophilia due to protein C deficiency, autosomal dominant (176860), Thrombophilia due to protein C deficiency, autosomal recessive (612304); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.512 CLDN9 Zornitza Stark Gene: cldn9 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.512 CLDN9 Zornitza Stark Classified gene: CLDN9 as Amber List (moderate evidence)
Mendeliome v0.512 CLDN9 Zornitza Stark Gene: cldn9 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.511 CLDN9 Zornitza Stark gene: CLDN9 was added
gene: CLDN9 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: CLDN9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN9 were set to 31175426; 19696885
Phenotypes for gene: CLDN9 were set to Deafness, autosomal recessive
Review for gene: CLDN9 was set to AMBER
Added comment: Single family with multiple sibs reported; mouse model exhibits deafness.
Sources: Literature
Mendeliome v0.510 TOP2B Zornitza Stark Gene: top2b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.510 TOP2B Zornitza Stark Classified gene: TOP2B as Amber List (moderate evidence)
Mendeliome v0.510 TOP2B Zornitza Stark Gene: top2b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.508 AP1B1 Zornitza Stark Gene: ap1b1 has been classified as Green List (High Evidence).
Mendeliome v0.508 AP1B1 Zornitza Stark Classified gene: AP1B1 as Green List (high evidence)
Mendeliome v0.508 AP1B1 Zornitza Stark Gene: ap1b1 has been classified as Green List (High Evidence).
Mendeliome v0.507 AP1B1 Zornitza Stark gene: AP1B1 was added
gene: AP1B1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1B1 were set to 31630788; 31630791
Phenotypes for gene: AP1B1 were set to Intellectual disability; enteropathy; deafness; ichthyosis; keratoderma
Review for gene: AP1B1 was set to GREEN
Added comment: Four unrelated families with bi-allelic LoF variants in this gene.
Sources: Literature
Mendeliome v0.506 ADCY1 Zornitza Stark Gene: adcy1 has been classified as Red List (Low Evidence).
Mendeliome v0.505 ADCY1 Zornitza Stark Phenotypes for gene: ADCY1 were changed from to Deafness, autosomal recessive 44, MIM# 610154
Mendeliome v0.503 ADCY1 Zornitza Stark Classified gene: ADCY1 as Red List (low evidence)
Mendeliome v0.503 ADCY1 Zornitza Stark Gene: adcy1 has been classified as Red List (Low Evidence).
Mendeliome v0.502 ADCY1 Zornitza Stark reviewed gene: ADCY1: Rating: RED; Mode of pathogenicity: None; Publications: 24482543; Phenotypes: Deafness, autosomal recessive 44, MIM# 610154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.502 BDP1 Zornitza Stark Gene: bdp1 has been classified as Red List (Low Evidence).
Mendeliome v0.501 BDP1 Zornitza Stark Phenotypes for gene: BDP1 were changed from to Deafness, autosomal recessive 112, MIM#618257
Mendeliome v0.499 BDP1 Zornitza Stark Classified gene: BDP1 as Red List (low evidence)
Mendeliome v0.499 BDP1 Zornitza Stark Gene: bdp1 has been classified as Red List (Low Evidence).
Mendeliome v0.498 BDP1 Zornitza Stark reviewed gene: BDP1: Rating: RED; Mode of pathogenicity: None; Publications: 24312468, 25060281; Phenotypes: Deafness, autosomal recessive 112, MIM#618257; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.498 CLIC5 Zornitza Stark Phenotypes for gene: CLIC5 were changed from to Deafness, autosomal recessive 103, MIM# 616042
Mendeliome v0.495 CLIC5 Zornitza Stark Classified gene: CLIC5 as Amber List (moderate evidence)
Mendeliome v0.495 CLIC5 Zornitza Stark Gene: clic5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.494 CLIC5 Zornitza Stark reviewed gene: CLIC5: Rating: AMBER; Mode of pathogenicity: None; Publications: 24781754, 17021174; Phenotypes: Deafness, autosomal recessive 103, MIM# 616042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.494 DIABLO Zornitza Stark Gene: diablo has been classified as Red List (Low Evidence).
Mendeliome v0.491 DIABLO Zornitza Stark Classified gene: DIABLO as Red List (low evidence)
Mendeliome v0.491 DIABLO Zornitza Stark Gene: diablo has been classified as Red List (Low Evidence).
Mendeliome v0.490 DIAPH3 Zornitza Stark Gene: diaph3 has been classified as Red List (Low Evidence).
Mendeliome v0.487 DIAPH3 Zornitza Stark Classified gene: DIAPH3 as Red List (low evidence)
Mendeliome v0.487 DIAPH3 Zornitza Stark Gene: diaph3 has been classified as Red List (Low Evidence).
Mendeliome v0.486 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
Mendeliome v0.486 DMXL2 Zornitza Stark Classified gene: DMXL2 as Green List (high evidence)
Mendeliome v0.486 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Green List (High Evidence).
Mendeliome v0.484 ELMOD3 Zornitza Stark Gene: elmod3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.484 ELMOD3 Zornitza Stark Phenotypes for gene: ELMOD3 were changed from to Deafness, autosomal recessive 88, MIM# 615429; Deafness, autosomal dominant
Mendeliome v0.481 ELMOD3 Zornitza Stark Classified gene: ELMOD3 as Amber List (moderate evidence)
Mendeliome v0.481 ELMOD3 Zornitza Stark Gene: elmod3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.480 ELMOD3 Zornitza Stark reviewed gene: ELMOD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 24039609, 31628468, 30284680, 29713870; Phenotypes: Deafness, autosomal recessive 88, MIM# 615429, Deafness, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.480 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Green List (High Evidence).
Mendeliome v0.480 EPS8L2 Zornitza Stark Classified gene: EPS8L2 as Green List (high evidence)
Mendeliome v0.480 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Green List (High Evidence).
Mendeliome v0.479 EPS8L2 Zornitza Stark gene: EPS8L2 was added
gene: EPS8L2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: EPS8L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPS8L2 were set to 26282398; 23918390; 28281779
Phenotypes for gene: EPS8L2 were set to Deafness autosomal recessive 106, MIM# 617637
Review for gene: EPS8L2 was set to GREEN
Added comment: Two unrelated families and a mouse model.
Sources: Expert list
Mendeliome v0.478 GRXCR2 Zornitza Stark Gene: grxcr2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.478 GRXCR2 Zornitza Stark Phenotypes for gene: GRXCR2 were changed from to Deafness, autosomal recessive 101, MIM# 615837
Mendeliome v0.476 GRXCR2 Zornitza Stark Classified gene: GRXCR2 as Amber List (moderate evidence)
Mendeliome v0.476 GRXCR2 Zornitza Stark Gene: grxcr2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.475 GRXCR2 Zornitza Stark reviewed gene: GRXCR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24619944; Phenotypes: Deafness, autosomal recessive 101, MIM# 615837; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.473 KITLG Zornitza Stark Gene: kitlg has been classified as Amber List (Moderate Evidence).
Mendeliome v0.470 KITLG Zornitza Stark Classified gene: KITLG as Amber List (moderate evidence)
Mendeliome v0.470 KITLG Zornitza Stark Gene: kitlg has been classified as Amber List (Moderate Evidence).
Mendeliome v0.466 MIR96 Zornitza Stark Classified gene: MIR96 as Amber List (moderate evidence)
Mendeliome v0.466 MIR96 Zornitza Stark Gene: mir96 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.465 NUP188 Zornitza Stark Gene: nup188 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.462 NUP188 Zornitza Stark Classified gene: NUP188 as Amber List (moderate evidence)
Mendeliome v0.462 NUP188 Zornitza Stark Gene: nup188 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.461 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Mendeliome v0.461 SLC5A6 Zornitza Stark Classified gene: SLC5A6 as Green List (high evidence)
Mendeliome v0.461 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Mendeliome v0.459 KIF23 Zornitza Stark Gene: kif23 has been classified as Red List (Low Evidence).
Mendeliome v0.456 KIF23 Zornitza Stark Classified gene: KIF23 as Red List (low evidence)
Mendeliome v0.456 KIF23 Zornitza Stark Gene: kif23 has been classified as Red List (Low Evidence).
Mendeliome v0.455 ATP2B3 Zornitza Stark Gene: atp2b3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.452 ATP2B3 Zornitza Stark Classified gene: ATP2B3 as Amber List (moderate evidence)
Mendeliome v0.452 ATP2B3 Zornitza Stark Gene: atp2b3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.451 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.449 CACNB4 Zornitza Stark Classified gene: CACNB4 as Amber List (moderate evidence)
Mendeliome v0.449 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.447 CAPN1 Zornitza Stark Gene: capn1 has been classified as Green List (High Evidence).
Mendeliome v0.447 CAPN1 Zornitza Stark Phenotypes for gene: CAPN1 were changed from to Spastic paraplegia 76, autosomal recessive, MIM#616907
Mendeliome v0.444 CAPN1 Zornitza Stark reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27153400; Phenotypes: Spastic paraplegia 76, autosomal recessive, MIM#616907; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.444 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Red List (Low Evidence).
Mendeliome v0.442 CCDC28B Zornitza Stark Classified gene: CCDC28B as Red List (low evidence)
Mendeliome v0.442 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Red List (Low Evidence).
Mendeliome v0.441 COA7 Zornitza Stark Gene: coa7 has been classified as Green List (High Evidence).
Mendeliome v0.441 COA7 Zornitza Stark Classified gene: COA7 as Green List (high evidence)
Mendeliome v0.441 COA7 Zornitza Stark Gene: coa7 has been classified as Green List (High Evidence).
Mendeliome v0.440 COA7 Zornitza Stark gene: COA7 was added
gene: COA7 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA7 were set to 29718187; 27683825
Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, MIM#618387
Review for gene: COA7 was set to GREEN
Added comment: Five unrelated individuals reported with bi-allelic variants in this gene. Slowly progressive condition with variable onset, but at least three individuals presented at <5 years of age.
Sources: Expert list
Mendeliome v0.438 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.435 CCDC88C Zornitza Stark Classified gene: CCDC88C as Amber List (moderate evidence)
Mendeliome v0.435 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.434 COQ5 Zornitza Stark Gene: coq5 has been classified as Red List (Low Evidence).
Mendeliome v0.431 COQ5 Zornitza Stark Classified gene: COQ5 as Red List (low evidence)
Mendeliome v0.431 COQ5 Zornitza Stark Gene: coq5 has been classified as Red List (Low Evidence).
Mendeliome v0.430 EEF2 Zornitza Stark Gene: eef2 has been classified as Red List (Low Evidence).
Mendeliome v0.427 EEF2 Zornitza Stark Classified gene: EEF2 as Red List (low evidence)
Mendeliome v0.427 EEF2 Zornitza Stark Gene: eef2 has been classified as Red List (Low Evidence).
Mendeliome v0.426 FAT2 Zornitza Stark Gene: fat2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.426 FAT2 Zornitza Stark Classified gene: FAT2 as Amber List (moderate evidence)
Mendeliome v0.426 FAT2 Zornitza Stark Gene: fat2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.424 GDAP2 Zornitza Stark Gene: gdap2 has been classified as Green List (High Evidence).
Mendeliome v0.424 GDAP2 Zornitza Stark Classified gene: GDAP2 as Green List (high evidence)
Mendeliome v0.424 GDAP2 Zornitza Stark Gene: gdap2 has been classified as Green List (High Evidence).
Mendeliome v0.423 GDAP2 Zornitza Stark gene: GDAP2 was added
gene: GDAP2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: GDAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GDAP2 were set to 30084953
Phenotypes for gene: GDAP2 were set to Spinocerebellar ataxia, autosomal recessive 27, MIM#618369
Review for gene: GDAP2 was set to GREEN
Added comment: Two families and animal model.
Sources: Expert list
Mendeliome v0.422 MN1 Zornitza Stark Gene: mn1 has been classified as Green List (High Evidence).
Mendeliome v0.422 MN1 Zornitza Stark Phenotypes for gene: MN1 were changed from to Intellectual disability; dysmophic features; rhombencephalosynapsis
Mendeliome v0.418 MN1 Zornitza Stark reviewed gene: MN1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31834374, 31839203; Phenotypes: Intellectual disability, dysmophic features, rhombencephalosynapsis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.418 NDUFAF8 Zornitza Stark Gene: ndufaf8 has been classified as Green List (High Evidence).
Mendeliome v0.418 NDUFAF8 Zornitza Stark Classified gene: NDUFAF8 as Green List (high evidence)
Mendeliome v0.418 NDUFAF8 Zornitza Stark Gene: ndufaf8 has been classified as Green List (High Evidence).
Mendeliome v0.416 EEF1B2 Zornitza Stark Gene: eef1b2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.416 EEF1B2 Zornitza Stark Classified gene: EEF1B2 as Amber List (moderate evidence)
Mendeliome v0.416 EEF1B2 Zornitza Stark Gene: eef1b2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.414 INSRR Zornitza Stark Gene: insrr has been classified as Red List (Low Evidence).
Mendeliome v0.414 INSRR Zornitza Stark Classified gene: INSRR as Red List (low evidence)
Mendeliome v0.414 INSRR Zornitza Stark Added comment: Comment on list classification: Agreed, cannot find evidence for Mendelian gene-disease association.
Mendeliome v0.414 INSRR Zornitza Stark Gene: insrr has been classified as Red List (Low Evidence).
Mendeliome v0.413 GRIK5 Zornitza Stark Gene: grik5 has been classified as Red List (Low Evidence).
Mendeliome v0.413 GRIK5 Zornitza Stark Classified gene: GRIK5 as Red List (low evidence)
Mendeliome v0.413 GRIK5 Zornitza Stark Added comment: Comment on list classification: Agreed, cannot find evidence for Mendelian gene-disease association.
Mendeliome v0.413 GRIK5 Zornitza Stark Gene: grik5 has been classified as Red List (Low Evidence).
Mendeliome v0.412 TBC1D8B Zornitza Stark Gene: tbc1d8b has been classified as Green List (High Evidence).
Mendeliome v0.410 MPST Zornitza Stark Gene: mpst has been classified as Red List (Low Evidence).
Mendeliome v0.410 MPST Zornitza Stark Classified gene: MPST as Red List (low evidence)
Mendeliome v0.410 MPST Zornitza Stark Gene: mpst has been classified as Red List (Low Evidence).
Mendeliome v0.407 TRIM24 Zornitza Stark Gene: trim24 has been classified as Red List (Low Evidence).
Mendeliome v0.407 TRIM24 Zornitza Stark Classified gene: TRIM24 as Red List (low evidence)
Mendeliome v0.407 TRIM24 Zornitza Stark Gene: trim24 has been classified as Red List (Low Evidence).
Mendeliome v0.406 ARID5B Zornitza Stark Gene: arid5b has been classified as Red List (Low Evidence).
Mendeliome v0.406 ARID5B Zornitza Stark Classified gene: ARID5B as Red List (low evidence)
Mendeliome v0.406 ARID5B Zornitza Stark Gene: arid5b has been classified as Red List (Low Evidence).
Mendeliome v0.405 MLX Zornitza Stark Gene: mlx has been classified as Red List (Low Evidence).
Mendeliome v0.405 MLX Zornitza Stark Classified gene: MLX as Red List (low evidence)
Mendeliome v0.405 MLX Zornitza Stark Gene: mlx has been classified as Red List (Low Evidence).
Mendeliome v0.404 REV3L Zornitza Stark Gene: rev3l has been classified as Green List (High Evidence).
Mendeliome v0.401 SELP Zornitza Stark Gene: selp has been classified as Red List (Low Evidence).
Mendeliome v0.401 SELP Zornitza Stark Classified gene: SELP as Red List (low evidence)
Mendeliome v0.401 SELP Zornitza Stark Gene: selp has been classified as Red List (Low Evidence).
Mendeliome v0.400 FLG2 Zornitza Stark Gene: flg2 has been classified as Green List (High Evidence).
Mendeliome v0.400 FLG2 Zornitza Stark Classified gene: FLG2 as Green List (high evidence)
Mendeliome v0.400 FLG2 Zornitza Stark Gene: flg2 has been classified as Green List (High Evidence).
Mendeliome v0.398 NLRP2 Zornitza Stark Gene: nlrp2 has been classified as Green List (High Evidence).
Mendeliome v0.395 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Red List (Low Evidence).
Mendeliome v0.392 TBC1D32 Zornitza Stark Classified gene: TBC1D32 as Red List (low evidence)
Mendeliome v0.392 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Red List (Low Evidence).
Mendeliome v0.391 EXOC3L2 Zornitza Stark Gene: exoc3l2 has been classified as Green List (High Evidence).
Mendeliome v0.391 EXOC3L2 Zornitza Stark Phenotypes for gene: EXOC3L2 were changed from to Dandy-Walker malformation; renal dysplasia; bone marrow failure
Mendeliome v0.388 NUP37 Zornitza Stark gene: NUP37 was added
gene: NUP37 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NUP37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP37 were set to 30179222
Phenotypes for gene: NUP37 were set to Nephrotic syndrome
Review for gene: NUP37 was set to RED
Added comment: Single family reported with nephrotic syndrome.
Sources: Literature
Mendeliome v0.387 NUP133 Zornitza Stark Gene: nup133 has been classified as Green List (High Evidence).
Mendeliome v0.387 NUP133 Zornitza Stark Classified gene: NUP133 as Green List (high evidence)
Mendeliome v0.387 NUP133 Zornitza Stark Gene: nup133 has been classified as Green List (High Evidence).
Mendeliome v0.385 NUP160 Zornitza Stark Gene: nup160 has been classified as Red List (Low Evidence).
Mendeliome v0.385 NUP160 Zornitza Stark gene: NUP160 was added
gene: NUP160 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NUP160 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP160 were set to 30179222
Phenotypes for gene: NUP160 were set to Nephrotic syndrome, type 19, MIM#618178
Review for gene: NUP160 was set to RED
Added comment: Single family, no functional data.
Sources: Literature
Mendeliome v0.384 NUP85 Zornitza Stark Gene: nup85 has been classified as Green List (High Evidence).
Mendeliome v0.384 NUP85 Zornitza Stark Classified gene: NUP85 as Green List (high evidence)
Mendeliome v0.384 NUP85 Zornitza Stark Gene: nup85 has been classified as Green List (High Evidence).
Mendeliome v0.382 XPO5 Zornitza Stark Gene: xpo5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.379 XPO5 Zornitza Stark Classified gene: XPO5 as Amber List (moderate evidence)
Mendeliome v0.379 XPO5 Zornitza Stark Gene: xpo5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.378 NUP205 Zornitza Stark Gene: nup205 has been classified as Red List (Low Evidence).
Mendeliome v0.375 NUP205 Zornitza Stark Classified gene: NUP205 as Red List (low evidence)
Mendeliome v0.375 NUP205 Zornitza Stark Gene: nup205 has been classified as Red List (Low Evidence).
Mendeliome v0.374 KANK1 Zornitza Stark Classified gene: KANK1 as Amber List (moderate evidence)
Mendeliome v0.374 KANK1 Zornitza Stark Added comment: Comment on list classification: Amber for nephrotic after discussion with Chirag Patel.
Mendeliome v0.374 KANK1 Zornitza Stark Gene: kank1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.373 KANK4 Zornitza Stark Gene: kank4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.373 KANK4 Zornitza Stark Classified gene: KANK4 as Amber List (moderate evidence)
Mendeliome v0.373 KANK4 Zornitza Stark Gene: kank4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.372 KANK4 Zornitza Stark gene: KANK4 was added
gene: KANK4 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: KANK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KANK4 were set to 25961457
Phenotypes for gene: KANK4 were set to Nephrotic syndrome
Review for gene: KANK4 was set to AMBER
Added comment: Two individuals from a single family reported; gene belongs to a family implicated in nephrotic syndrome.
Sources: Expert list
Mendeliome v0.371 KCNT2 Zornitza Stark Gene: kcnt2 has been classified as Green List (High Evidence).
Mendeliome v0.371 KCNT2 Zornitza Stark Classified gene: KCNT2 as Green List (high evidence)
Mendeliome v0.371 KCNT2 Zornitza Stark Gene: kcnt2 has been classified as Green List (High Evidence).
Mendeliome v0.370 KCNT2 Zornitza Stark gene: KCNT2 was added
gene: KCNT2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: KCNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNT2 were set to 29069600; 29740868
Phenotypes for gene: KCNT2 were set to Epileptic encephalopathy, early infantile, 57, MIM#617771; Developmental and epileptic encephalopathy
Review for gene: KCNT2 was set to GREEN
Added comment: Reviewed by E Palmer: Ambrosino et al described 2 unrelated females with de novo variants in KCNT2. The first patient had the variant p.(Arg190His) had with West syndrome followed by Lennox-Gastaut syndrome , the second patient had the variant p.(Arg190Pro) and DEE with migrating focal seizures. Both variants were absent gnomad and had supportive in silico support for pathogenicity. In an electrophisological model both KCNT2 R190P and KCNT2 R190H increased maximal current density and shifted toward more negative membrane potential values the activation curve of KCNT2 channels, consistent with gain of function effects. PMID: 29740868.

Gururaj et al describe one male with de novo variant in KCNT2 p. (Phe240Leu) and early infantile epileptic encephalopathy. he variant was absent gnomad and supportive evidence of pathogenicity This variant was electrophysiologically modelled and revealed that the variant resulted in a 'change in function' demonstrating unusual altered selectivity in KNa channels.PMID: 29069600.
Sources: Literature
Mendeliome v0.369 PLS1 Zornitza Stark Gene: pls1 has been classified as Green List (High Evidence).
Mendeliome v0.369 PLS1 Zornitza Stark Classified gene: PLS1 as Green List (high evidence)
Mendeliome v0.369 PLS1 Zornitza Stark Gene: pls1 has been classified as Green List (High Evidence).
Mendeliome v0.367 TASP1 Zornitza Stark Gene: tasp1 has been classified as Green List (High Evidence).
Mendeliome v0.367 TASP1 Zornitza Stark Classified gene: TASP1 as Green List (high evidence)
Mendeliome v0.367 TASP1 Zornitza Stark Gene: tasp1 has been classified as Green List (High Evidence).
Mendeliome v0.366 TASP1 Zornitza Stark gene: TASP1 was added
gene: TASP1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: TASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TASP1 were set to 31209944; 31350873
Phenotypes for gene: TASP1 were set to Developmental delay; microcephaly; dysmorphic features; congenital abnormalities
Review for gene: TASP1 was set to GREEN
Added comment: Four unrelated families reported; two with founder mutation. Protein interacts with KMT2A and KMT2D. Another infant with a de novo missense variant reported in a single infant with multiple congenital abnormalities, insufficient evidence for mono allelic disease at present.
Sources: Literature
Mendeliome v0.365 FST Zornitza Stark gene: FST was added
gene: FST was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: FST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FST were set to 31215115
Phenotypes for gene: FST were set to Cleft lip and palate
Review for gene: FST was set to RED
Added comment: Single family reported.
Sources: Literature
Mendeliome v0.364 GDF11 Zornitza Stark Gene: gdf11 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.364 GDF11 Zornitza Stark Classified gene: GDF11 as Amber List (moderate evidence)
Mendeliome v0.364 GDF11 Zornitza Stark Gene: gdf11 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.363 GDF11 Zornitza Stark gene: GDF11 was added
gene: GDF11 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: GDF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GDF11 were set to 31215115
Phenotypes for gene: GDF11 were set to Cleft lip and palate
Review for gene: GDF11 was set to AMBER
Added comment: Cleft lip and palate, and rib and vertebral hypersegmentation in a single family. Mouse model.
Sources: Literature
Mendeliome v0.362 PRDM13 Zornitza Stark Gene: prdm13 has been classified as Green List (High Evidence).
Mendeliome v0.362 PRDM13 Zornitza Stark Classified gene: PRDM13 as Green List (high evidence)
Mendeliome v0.362 PRDM13 Zornitza Stark Gene: prdm13 has been classified as Green List (High Evidence).
Mendeliome v0.360 MICB Zornitza Stark Gene: micb has been classified as Red List (Low Evidence).
Mendeliome v0.360 MICB Zornitza Stark Classified gene: MICB as Red List (low evidence)
Mendeliome v0.360 MICB Zornitza Stark Gene: micb has been classified as Red List (Low Evidence).
Mendeliome v0.359 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.358 ANKRD17 Zornitza Stark Classified gene: ANKRD17 as Amber List (moderate evidence)
Mendeliome v0.358 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.357 TTLL10 Zornitza Stark Gene: ttll10 has been classified as Red List (Low Evidence).
Mendeliome v0.357 TTLL10 Zornitza Stark Classified gene: TTLL10 as Red List (low evidence)
Mendeliome v0.357 TTLL10 Zornitza Stark Gene: ttll10 has been classified as Red List (Low Evidence).
Mendeliome v0.356 ZFHX3 Zornitza Stark Gene: zfhx3 has been classified as Green List (High Evidence).
Mendeliome v0.354 USP7 Zornitza Stark Gene: usp7 has been classified as Green List (High Evidence).
Mendeliome v0.351 KLHL24 Tiong Tan Gene: klhl24 has been classified as Green List (High Evidence).
Mendeliome v0.351 KLHL24 Tiong Tan Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy to Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy
Mendeliome v0.350 KLHL24 Tiong Tan Phenotypes for gene: KLHL24 were changed from to Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy
Mendeliome v0.347 KLHL24 Tiong Tan reviewed gene: KLHL24: Rating: GREEN; Mode of pathogenicity: None; Publications: 29779254, 30120936; Phenotypes: Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294, dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.347 SLC12A2 Zornitza Stark Gene: slc12a2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.347 SLC12A2 Zornitza Stark Classified gene: SLC12A2 as Amber List (moderate evidence)
Mendeliome v0.347 SLC12A2 Zornitza Stark Gene: slc12a2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.346 SLC12A2 Zornitza Stark gene: SLC12A2 was added
gene: SLC12A2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SLC12A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A2 were set to 30740830
Phenotypes for gene: SLC12A2 were set to Kilquist syndrome; deafness; intellectual disability; dysmorphic features; absent salivation
Review for gene: SLC12A2 was set to AMBER
Added comment: Single individual with bi-alllelic deletion described; mouse model recapitulated the phenotype.
Sources: Literature
Mendeliome v0.345 PANK4 Zornitza Stark Gene: pank4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.345 PANK4 Zornitza Stark Classified gene: PANK4 as Amber List (moderate evidence)
Mendeliome v0.345 PANK4 Zornitza Stark Gene: pank4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.344 PANK4 Zornitza Stark gene: PANK4 was added
gene: PANK4 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PANK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PANK4 were set to 30585370
Phenotypes for gene: PANK4 were set to Congenital posterior cataract
Review for gene: PANK4 was set to AMBER
Added comment: Variant segregated with cataract in single 4-generation family, functional data including mouse model.
Sources: Literature
Mendeliome v0.343 CSNK1E Zornitza Stark Gene: csnk1e has been classified as Red List (Low Evidence).
Mendeliome v0.342 DST Zornitza Stark Gene: dst has been classified as Green List (High Evidence).
Mendeliome v0.342 DST Zornitza Stark Phenotypes for gene: DST were changed from to Neuropathy, hereditary sensory and autonomic, type VI, MIM#614653; Epidermolysis bullosa simplex, autosomal recessive 2, MIM#615425
Mendeliome v0.339 DST Zornitza Stark reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: None; Publications: 22522446, 30371979, 28468842; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VI, MIM#614653, Epidermolysis bullosa simplex, autosomal recessive 2, MIM#615425; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.339 DEGS1 Zornitza Stark Gene: degs1 has been classified as Green List (High Evidence).
Mendeliome v0.339 DEGS1 Zornitza Stark Classified gene: DEGS1 as Green List (high evidence)
Mendeliome v0.339 DEGS1 Zornitza Stark Gene: degs1 has been classified as Green List (High Evidence).
Mendeliome v0.337 POLD2 Zornitza Stark Gene: pold2 has been classified as Red List (Low Evidence).
Mendeliome v0.337 POLD2 Zornitza Stark gene: POLD2 was added
gene: POLD2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: POLD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLD2 were set to 31449058
Phenotypes for gene: POLD2 were set to Intellectual disability; immunodeficiency
Review for gene: POLD2 was set to RED
Added comment: Single family, functional data.
Sources: Literature
Mendeliome v0.336 ZNF292 Zornitza Stark Gene: znf292 has been classified as Green List (High Evidence).
Mendeliome v0.336 ZNF292 Zornitza Stark Classified gene: ZNF292 as Green List (high evidence)
Mendeliome v0.336 ZNF292 Zornitza Stark Gene: znf292 has been classified as Green List (High Evidence).
Mendeliome v0.334 ZMIZ1 Zornitza Stark Gene: zmiz1 has been classified as Green List (High Evidence).
Mendeliome v0.334 ZMIZ1 Zornitza Stark Classified gene: ZMIZ1 as Green List (high evidence)
Mendeliome v0.334 ZMIZ1 Zornitza Stark Gene: zmiz1 has been classified as Green List (High Evidence).
Mendeliome v0.332 VAMP2 Zornitza Stark Gene: vamp2 has been classified as Green List (High Evidence).
Mendeliome v0.332 VAMP2 Zornitza Stark Classified gene: VAMP2 as Green List (high evidence)
Mendeliome v0.332 VAMP2 Zornitza Stark Gene: vamp2 has been classified as Green List (High Evidence).
Mendeliome v0.331 VAMP2 Zornitza Stark gene: VAMP2 was added
gene: VAMP2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: VAMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VAMP2 were set to 30929742
Phenotypes for gene: VAMP2 were set to Intellectual disability; Autism
Review for gene: VAMP2 was set to GREEN
Added comment: 5 unrelated patients with heterozygous de novo mutations in VAMP2, presenting with a neurodevelopmental disorder characterized by axial hypotonia, intellectual disability, and autistic features. Affected individuals carrying de novo non-synonymous variants involving the C-terminal region presented a more severe phenotype with additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. Reconstituted fusion involving a lipid-mixing assay indicated impairment in vesicle fusion as one of the possible associated disease mechanisms.
Sources: Literature
Mendeliome v0.330 TENM3 Zornitza Stark Gene: tenm3 has been classified as Green List (High Evidence).
Mendeliome v0.327 TARS Zornitza Stark Gene: tars has been classified as Amber List (Moderate Evidence).
Mendeliome v0.327 TARS Zornitza Stark Classified gene: TARS as Amber List (moderate evidence)
Mendeliome v0.327 TARS Zornitza Stark Gene: tars has been classified as Amber List (Moderate Evidence).
Mendeliome v0.326 TARS Zornitza Stark gene: TARS was added
gene: TARS was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: TARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TARS were set to 31374204
Phenotypes for gene: TARS were set to Trichothiodystrophy 7, nonphotosensitive; OMIM #618546
Review for gene: TARS was set to AMBER
Added comment: Clinical features of trichothiodystrophy (TTD) include ichthyosis, intellectual disability, decreased fertility, short stature.

2 unrelated patients with non-photosensitive-TTD, in whom limited clinical information was available (one with DD): one compound heterozygous TARS variants, second homozygous for TARS variant. They showed that the variants had a profound effect on TARS protein stability and enzymatic function.
Sources: Literature
Mendeliome v0.325 TANC2 Zornitza Stark Gene: tanc2 has been classified as Green List (High Evidence).
Mendeliome v0.325 TANC2 Zornitza Stark Classified gene: TANC2 as Green List (high evidence)
Mendeliome v0.325 TANC2 Zornitza Stark Gene: tanc2 has been classified as Green List (High Evidence).
Mendeliome v0.323 SVBP Zornitza Stark Gene: svbp has been classified as Green List (High Evidence).
Mendeliome v0.323 SVBP Zornitza Stark Classified gene: SVBP as Green List (high evidence)
Mendeliome v0.323 SVBP Zornitza Stark Gene: svbp has been classified as Green List (High Evidence).
Mendeliome v0.322 SVBP Zornitza Stark gene: SVBP was added
gene: SVBP was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SVBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SVBP were set to 31363758; 30607023
Phenotypes for gene: SVBP were set to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly; OMIM #618569
Review for gene: SVBP was set to GREEN
Added comment: 5 unrelated families with homozygous mutations in SVBP. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls.
Sources: Literature
Mendeliome v0.321 SOX4 Zornitza Stark Gene: sox4 has been classified as Green List (High Evidence).
Mendeliome v0.321 SOX4 Zornitza Stark Classified gene: SOX4 as Green List (high evidence)
Mendeliome v0.321 SOX4 Zornitza Stark Gene: sox4 has been classified as Green List (High Evidence).
Mendeliome v0.320 SOX4 Zornitza Stark gene: SOX4 was added
gene: SOX4 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SOX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX4 were set to 30661772
Phenotypes for gene: SOX4 were set to Coffin-Siris syndrome 10; OMIM #618506
Review for gene: SOX4 was set to GREEN
Added comment: 4 patients with syndromic DD/ID and de novo mutations in SOX4 gene. Functional assays demonstrated that the SOX4 proteins carrying these variants were unable to bind DNA in vitro and transactivate SOX reporter genes in cultured cells.
Sources: Literature
Mendeliome v0.319 SNRPE Zornitza Stark Gene: snrpe has been classified as Green List (High Evidence).
Mendeliome v0.319 SNRPE Zornitza Stark Phenotypes for gene: SNRPE were changed from to Hypotrichosis 11; OMIM #615059
Mendeliome v0.316 SNRPE Zornitza Stark reviewed gene: SNRPE: Rating: GREEN; Mode of pathogenicity: None; Publications: 31671093, 23246290; Phenotypes: Hypotrichosis 11, OMIM #615059; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.316 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Mendeliome v0.316 SCAPER Zornitza Stark Classified gene: SCAPER as Green List (high evidence)
Mendeliome v0.316 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Mendeliome v0.314 SCAMP5 Zornitza Stark Gene: scamp5 has been classified as Green List (High Evidence).
Mendeliome v0.314 SCAMP5 Zornitza Stark Classified gene: SCAMP5 as Green List (high evidence)
Mendeliome v0.314 SCAMP5 Zornitza Stark Gene: scamp5 has been classified as Green List (High Evidence).
Mendeliome v0.313 SCAMP5 Zornitza Stark gene: SCAMP5 was added
gene: SCAMP5 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SCAMP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCAMP5 were set to 31439720
Phenotypes for gene: SCAMP5 were set to Intellectual disability; seizures; autism
Mode of pathogenicity for gene: SCAMP5 was set to Other
Review for gene: SCAMP5 was set to GREEN
Added comment: 2 unrelated individuals with ASD, ID and seizures, with the same heterozygous de novo variant in SCAMP5 (p.Gly302Trp). Western blot analysis of proteins overexpressed in the Drosophila fat body showed strongly reduced levels of the SCAMP p.Gly302Trp protein compared with the wild-type protein, indicating that the mutant either reduced expression or increased turnover of the protein. The expression of the fly homologue of the human SCAMP5 p.Gly180Trp mutation caused similar eye and neuronal phenotypes as the expression of SCAMP RNAi, suggesting a dominant-negative effect.
Sources: Literature
Mendeliome v0.312 PPP2CA Zornitza Stark Gene: ppp2ca has been classified as Green List (High Evidence).
Mendeliome v0.312 PPP2CA Zornitza Stark Classified gene: PPP2CA as Green List (high evidence)
Mendeliome v0.312 PPP2CA Zornitza Stark Gene: ppp2ca has been classified as Green List (High Evidence).
Mendeliome v0.311 PPP2CA Zornitza Stark gene: PPP2CA was added
gene: PPP2CA was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP2CA were set to 30595372
Phenotypes for gene: PPP2CA were set to Neurodevelopmental disorder and language delay with or without structural brain abnormalities; OMIM #618354
Review for gene: PPP2CA was set to GREEN
Added comment: 15 unrelated patients with a neurodevelopmental disorder with de novo heterozygous PPP2CA mutations, and 1 with partial deletion of PPP2CA. Functional studies showed complete PP2A dysfunction in 4 individuals with seemingly milder ID, hinting at haploinsufficiency. Ten other individuals showed mutation-specific biochemical distortions, including poor expression, altered binding to the A subunit and specific B-type subunits, and impaired phosphatase activity and C-terminal methylation.
Sources: Literature
Mendeliome v0.310 POU3F3 Zornitza Stark Gene: pou3f3 has been classified as Green List (High Evidence).
Mendeliome v0.310 POU3F3 Zornitza Stark Classified gene: POU3F3 as Green List (high evidence)
Mendeliome v0.310 POU3F3 Zornitza Stark Gene: pou3f3 has been classified as Green List (High Evidence).
Mendeliome v0.309 POU3F3 Zornitza Stark gene: POU3F3 was added
gene: POU3F3 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: POU3F3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POU3F3 were set to 24550763; 31303265
Phenotypes for gene: POU3F3 were set to Intellectual disability
Review for gene: POU3F3 was set to GREEN
Added comment: 19 individuals with DD/ID/speech issues and heterozygous POU3F3 disruptions, most of which were de novo variants. Positive functional cell-based analyses of pathogenic variants.

1 patient reported with whole gene deletion and ID.
Sources: Literature
Mendeliome v0.308 PISD Zornitza Stark Gene: pisd has been classified as Green List (High Evidence).
Mendeliome v0.308 PISD Zornitza Stark commented on gene: PISD: 4 individuals in 2 unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature (Liberfarb syndrome). Affected individuals shared a homozygous 10-bp deletion immediately upstream of the last exon of the PISD gene. In HEK293T cells, this variant led to aberrant splicing of PISD transcripts. 1 family with 2 sisters with congenital cataracts, short stature, and white matter changes identified compound heterozygous variants in the PISD gene. Decreased conversion of phosphatidylserine to PE in patient fibroblasts is consistent with impaired phosphatidylserine decarboxylase (PISD) enzyme activity.
Mendeliome v0.308 PIGU Zornitza Stark reviewed gene: PIGU: Rating: GREEN; Mode of pathogenicity: None; Publications: 31353022; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 21, OMIM #618590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.308 PIGB Zornitza Stark Gene: pigb has been classified as Green List (High Evidence).
Mendeliome v0.308 PIGB Zornitza Stark Classified gene: PIGB as Green List (high evidence)
Mendeliome v0.308 PIGB Zornitza Stark Gene: pigb has been classified as Green List (High Evidence).
Mendeliome v0.307 PIGB Zornitza Stark gene: PIGB was added
gene: PIGB was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGB were set to 31256876
Phenotypes for gene: PIGB were set to Epileptic encephalopathy, early infantile, 80; OMIM #618580
Review for gene: PIGB was set to GREEN
Added comment: 10 unrelated families with biallelic mutations in PIGB, with global DD and/or ID, and seizures. Two had polymicrogyria, 4 had a peripheral neuropathy, and 2 had a clinical diagnosis of DOORS syndrome. Patient lymphocytes and fibroblasts showed variably decreased levels of cell surface GPI-anchored proteins, including CD16 and CD59. In vitro functional expression studies performed with some of the mutations in PIGB-null CHO cells showed that the mutant proteins were unable to fully restore expression of GPI-anchored surface proteins, consistent with a loss of function, although the mutations had variable effects.
Sources: Literature
Mendeliome v0.306 PIBF1 Zornitza Stark Gene: pibf1 has been classified as Green List (High Evidence).
Mendeliome v0.306 PIBF1 Zornitza Stark Classified gene: PIBF1 as Green List (high evidence)
Mendeliome v0.306 PIBF1 Zornitza Stark Gene: pibf1 has been classified as Green List (High Evidence).
Mendeliome v0.304 PHF21A Zornitza Stark Gene: phf21a has been classified as Green List (High Evidence).
Mendeliome v0.304 PHF21A Zornitza Stark Classified gene: PHF21A as Green List (high evidence)
Mendeliome v0.304 PHF21A Zornitza Stark Gene: phf21a has been classified as Green List (High Evidence).
Mendeliome v0.303 PHF21A Zornitza Stark gene: PHF21A was added
gene: PHF21A was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PHF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHF21A were set to 31649809; 30487643; 22770980
Phenotypes for gene: PHF21A were set to Intellectual disability; dysmorphic features
Review for gene: PHF21A was set to GREEN
Added comment: 9 cases with intellectual disability and craniofacial anomalies (Potocki-Shaffer syndrome), with de novo truncating variants in PHF21A. No functional evidence of variants, but PHF21A is highly expressed in the human fetal brain, which is consistent with the neurodevelopmental phenotype.

2 other unrelated individuals with translocations disrupting PHF21A. Lymphoblastoid cell lines from translocation subjects showed derepression of the neuronal gene SCN3A and reduced LSD1 occupancy at the SCN3A promoter, supporting a direct functional consequence of PHF21A haploinsufficiency on transcriptional regulation.
Sources: Literature
Mendeliome v0.302 POLR2A Sue White Gene: polr2a has been classified as Green List (High Evidence).
Mendeliome v0.302 POLR2A Sue White Classified gene: POLR2A as Green List (high evidence)
Mendeliome v0.302 POLR2A Sue White Gene: polr2a has been classified as Green List (High Evidence).
Mendeliome v0.300 PAK1 Zornitza Stark Gene: pak1 has been classified as Green List (High Evidence).
Mendeliome v0.300 PAK1 Zornitza Stark Classified gene: PAK1 as Green List (high evidence)
Mendeliome v0.300 PAK1 Zornitza Stark Gene: pak1 has been classified as Green List (High Evidence).
Mendeliome v0.299 PAK1 Zornitza Stark gene: PAK1 was added
gene: PAK1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAK1 were set to 31504246; 30290153
Phenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay; OMIM #618158
Review for gene: PAK1 was set to GREEN
Added comment: 2 unrelated individuals with de novo PAK1 mutations, with developmental delay, secondary macrocephaly, seizures, and ataxic gait. Enhanced phosphorylation of the PAK1 targets JNK and AKT shown in fibroblasts of one subject and of c-JUN in those of both subjects compared with control subjects. In fibroblasts of the 2 affected individuals, they observed a trend toward enhanced PAK1 kinase activity. By using co-immunoprecipitation and size-exclusion chromatography, they observed a significantly reduced dimerization for both PAK1 mutants compared with wild-type PAK1.

4 unrelated individuals with intellectual disability, macrocephaly and seizures, with de novo heterozygous missense variants in PAK1.
Sources: Literature
Mendeliome v0.298 P4HTM Zornitza Stark Gene: p4htm has been classified as Green List (High Evidence).
Mendeliome v0.298 P4HTM Zornitza Stark Classified gene: P4HTM as Green List (high evidence)
Mendeliome v0.298 P4HTM Zornitza Stark Gene: p4htm has been classified as Green List (High Evidence).
Mendeliome v0.297 P4HTM Zornitza Stark gene: P4HTM was added
gene: P4HTM was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: P4HTM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: P4HTM were set to 25078763; 30940925
Phenotypes for gene: P4HTM were set to Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities; OMIM #618493
Review for gene: P4HTM was set to GREEN
Added comment: 12 patients from 5 families with hypotonia, intellectual disability, and eye abnormalities, and homozygous or compound heterozygous pathogenic P4HTM gene variants. Segregated with the disorder in the families. In vitro functional expression studies of 3 of the P4HTM variants showed that they caused a significant decrease in the amount of soluble protein compared to wildtype.
Sources: Literature
Mendeliome v0.296 NLGN1 Zornitza Stark Gene: nlgn1 has been classified as Red List (Low Evidence).
Mendeliome v0.295 NFASC Zornitza Stark Gene: nfasc has been classified as Green List (High Evidence).
Mendeliome v0.295 NFASC Zornitza Stark Classified gene: NFASC as Green List (high evidence)
Mendeliome v0.295 NFASC Zornitza Stark Gene: nfasc has been classified as Green List (High Evidence).
Mendeliome v0.293 NCAPD2 Zornitza Stark Gene: ncapd2 has been classified as Green List (High Evidence).
Mendeliome v0.293 NCAPD2 Zornitza Stark Phenotypes for gene: NCAPD2 were changed from to Microcephaly 21, primary, autosomal recessive; OMIM #617983
Mendeliome v0.290 NCAPD2 Zornitza Stark reviewed gene: NCAPD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31056748, 27737959, 28097321; Phenotypes: Microcephaly 21, primary, autosomal recessive, OMIM #617983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.290 MEPCE Zornitza Stark Gene: mepce has been classified as Red List (Low Evidence).
Mendeliome v0.290 MEPCE Zornitza Stark gene: MEPCE was added
gene: MEPCE was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: MEPCE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MEPCE were set to 31467394
Phenotypes for gene: MEPCE were set to Intellectual disability; seizures
Review for gene: MEPCE was set to RED
Added comment: 1 patient with global DD and seizures with de novo MEPCE nonsense variant. mRNA and protein analyses identified nonsense-mediated mRNA decay to underlie the decreased amount of MEPCE in patient fibroblasts followed by LARP7 and 7SK snRNA downregulation and HEXIM1 upregulation. Flavopiridol treatment and ectopic MEPCE protein expression in patient fibroblasts rescued increased expression of six RNAP II-sensitive genes and suggested a possible repressive effect of MEPCE on P-TEFb-dependent transcription of specific genes.
Sources: Literature
Mendeliome v0.289 MAST1 Zornitza Stark Gene: mast1 has been classified as Green List (High Evidence).
Mendeliome v0.289 MAST1 Zornitza Stark Classified gene: MAST1 as Green List (high evidence)
Mendeliome v0.289 MAST1 Zornitza Stark Gene: mast1 has been classified as Green List (High Evidence).
Mendeliome v0.288 MAST1 Zornitza Stark gene: MAST1 was added
gene: MAST1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAST1 were set to 31721002; 30449657
Phenotypes for gene: MAST1 were set to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations; OMIM #618273
Review for gene: MAST1 was set to GREEN
Added comment: 6 unrelated patients with mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) with de novo heterozygous mutations in MAST1 gene. In vitro functional studies showed that 1 of the variants (lys276del) increased MAST1 binding to microtubules compared to controls. Mutant mice heterozygous for a Mast1 leu278del allele showed a thicker corpus callosum compared to wildtype, and an overall reduction in cortical volume and thickness and decreased cerebellar volume and number of granule and Purkinje cells due to increased apoptosis compared to controls.

1 Emirati patient with ID, microcephaly, and dysmorphic features, with missense variant in MAST1.
Sources: Literature
Mendeliome v0.287 MACROD2 Zornitza Stark Gene: macrod2 has been classified as Red List (Low Evidence).
Mendeliome v0.286 LSS Zornitza Stark Gene: lss has been classified as Green List (High Evidence).
Mendeliome v0.286 LSS Zornitza Stark Classified gene: LSS as Green List (high evidence)
Mendeliome v0.286 LSS Zornitza Stark Gene: lss has been classified as Green List (High Evidence).
Mendeliome v0.285 LSS Zornitza Stark gene: LSS was added
gene: LSS was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSS were set to 30723320
Phenotypes for gene: LSS were set to Cataract 44, OMIM #616509; Hypotrichosis 14, OMIM #618275; Intellectual disability
Review for gene: LSS was set to GREEN
Added comment: Expanded the phenotypic spectrum of LSS to a recessive neuroectodermal syndrome formerly named alopecia with mental retardation (APMR) syndrome. Ten APMR individuals from 6 unrelated families with biallelic variants in LSS. Quantification of cholesterol and its precursors did not reveal noticeable imbalance.
Sources: Literature
Mendeliome v0.284 LSM1 Zornitza Stark Gene: lsm1 has been classified as Red List (Low Evidence).
Mendeliome v0.284 LSM1 Zornitza Stark gene: LSM1 was added
gene: LSM1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: LSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM1 were set to 31010896
Phenotypes for gene: LSM1 were set to intellectual disability; congenital abnormalities
Review for gene: LSM1 was set to RED
Added comment: 1 family with 2 siblings with global DD, multiple congenital anomalies, and abnormal eye movements, with homozygous splice variant in LSM1. Segregated with the phenotype in the family. Expression studies revealed absence of expression of the canonical isoform in the affected individuals. The Lsm1 knockout mice have a partially overlapping phenotype that affects the brain, heart, and eye.
Sources: Literature
Mendeliome v0.283 LMAN2L Zornitza Stark Gene: lman2l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.283 LMAN2L Zornitza Stark Classified gene: LMAN2L as Amber List (moderate evidence)
Mendeliome v0.283 LMAN2L Zornitza Stark Gene: lman2l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.282 LMAN2L Zornitza Stark gene: LMAN2L was added
gene: LMAN2L was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: LMAN2L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LMAN2L were set to 31020005; 26566883
Phenotypes for gene: LMAN2L were set to Mental retardation, autosomal recessive, 52; OMIM #616887
Review for gene: LMAN2L was set to AMBER
Added comment: 1 consanguineous family with 7 individuals with ID and epilepsy, with homozygous LMAN2L missense mutation. Segregated with disease in family, and unaffected family members were heterozygous variant carriers. No functional studies.

1 non-consanguineous family with 4 affected with heterozygous frameshift LMAN2L mutation. Segregates in family. Mutation eliminates LMAN2L's endoplasmic reticulum retention signal and mislocalizes the protein from that compartment to the plasma membrane.
Sources: Literature
Mendeliome v0.280 GRIA2 Zornitza Stark Gene: gria2 has been classified as Green List (High Evidence).
Mendeliome v0.280 GRIA2 Zornitza Stark Classified gene: GRIA2 as Green List (high evidence)
Mendeliome v0.280 GRIA2 Zornitza Stark Gene: gria2 has been classified as Green List (High Evidence).
Mendeliome v0.279 GRIA2 Zornitza Stark gene: GRIA2 was added
gene: GRIA2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: GRIA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIA2 were set to 31300657
Phenotypes for gene: GRIA2 were set to Intellectual disability; autism; Rett-like features; epileptic encephalopathy
Review for gene: GRIA2 was set to GREEN
Added comment: 28 unrelated patients with ID, ASD, Rett-like features, seizures/EE, and de novo heterozygous GRIA2 mutations. In functional expression studies, mutations led to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification.
Sources: Literature
Mendeliome v0.278 ADGRG6 Zornitza Stark Added comment: Comment when marking as ready: 1 family with 2 patients with profound ID, severe speech impairment, microcephaly, seizures, spasticity, and cerebellar hypoplasia, with homozygous missense variation in ADGRG6 (GPR126). No functional studies.
Mendeliome v0.278 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Red List (Low Evidence).
Mendeliome v0.275 ADGRG6 Zornitza Stark Classified gene: ADGRG6 as Red List (low evidence)
Mendeliome v0.275 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Red List (Low Evidence).
Mendeliome v0.274 GABRA5 Zornitza Stark Gene: gabra5 has been classified as Green List (High Evidence).
Mendeliome v0.274 GABRA5 Zornitza Stark Classified gene: GABRA5 as Green List (high evidence)
Mendeliome v0.274 GABRA5 Zornitza Stark Gene: gabra5 has been classified as Green List (High Evidence).
Mendeliome v0.273 GABRA5 Zornitza Stark gene: GABRA5 was added
gene: GABRA5 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: GABRA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRA5 were set to 31056671; 29961870
Phenotypes for gene: GABRA5 were set to Epileptic encephalopathy, early infantile, 79; OMIM #618559
Review for gene: GABRA5 was set to GREEN
Added comment: 3 unrelated patients with de novo heterozygous missense mutations in GABRA5 gene. In vitro functional expression studies in HEK293 cells showed that the mutant subunit was expressed at the surface and incorporated into the channel, but the mutant channel was 10 times more sensitive to GABA compared to wildtype. This increased sensitization resulted in increased receptor desensitization to GABA, with a reduced maximal GABA-evoked current and impaired capacity to pass GABAergic chloride current.
Sources: Literature
Mendeliome v0.272 FRY Zornitza Stark Gene: fry has been classified as Amber List (Moderate Evidence).
Mendeliome v0.272 FRY Zornitza Stark Classified gene: FRY as Amber List (moderate evidence)
Mendeliome v0.272 FRY Zornitza Stark Gene: fry has been classified as Amber List (Moderate Evidence).
Mendeliome v0.270 FBXL3 Zornitza Stark Gene: fbxl3 has been classified as Green List (High Evidence).
Mendeliome v0.270 FBXL3 Zornitza Stark Classified gene: FBXL3 as Green List (high evidence)
Mendeliome v0.270 FBXL3 Zornitza Stark Gene: fbxl3 has been classified as Green List (High Evidence).
Mendeliome v0.268 ETS1 Zornitza Stark Gene: ets1 has been classified as Red List (Low Evidence).
Mendeliome v0.268 ETS1 Zornitza Stark gene: ETS1 was added
gene: ETS1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ETS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ETS1 were set to 31160359
Phenotypes for gene: ETS1 were set to Intellectual disability
Review for gene: ETS1 was set to RED
Added comment: Single individual with de novo truncating variant in this gene; gene is Jacobsen syndrome critical region.
Sources: Literature
Mendeliome v0.267 ELMOD1 Zornitza Stark Gene: elmod1 has been classified as Red List (Low Evidence).
Mendeliome v0.267 ELMOD1 Zornitza Stark gene: ELMOD1 was added
gene: ELMOD1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ELMOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELMOD1 were set to 31327155
Phenotypes for gene: ELMOD1 were set to Intellectual disability
Review for gene: ELMOD1 was set to RED
Added comment: Single family reported.
Sources: Literature
Mendeliome v0.266 EEF1D Zornitza Stark Gene: eef1d has been classified as Amber List (Moderate Evidence).
Mendeliome v0.266 EEF1D Zornitza Stark Classified gene: EEF1D as Amber List (moderate evidence)
Mendeliome v0.266 EEF1D Zornitza Stark Gene: eef1d has been classified as Amber List (Moderate Evidence).
Mendeliome v0.264 DYNC1I2 Zornitza Stark Gene: dync1i2 has been classified as Green List (High Evidence).
Mendeliome v0.264 DYNC1I2 Zornitza Stark Classified gene: DYNC1I2 as Green List (high evidence)
Mendeliome v0.264 DYNC1I2 Zornitza Stark Gene: dync1i2 has been classified as Green List (High Evidence).
Mendeliome v0.262 DTYMK Zornitza Stark Gene: dtymk has been classified as Red List (Low Evidence).
Mendeliome v0.262 DTYMK Zornitza Stark gene: DTYMK was added
gene: DTYMK was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: DTYMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DTYMK were set to 31271740
Phenotypes for gene: DTYMK were set to Intellectual disability; microcephaly
Review for gene: DTYMK was set to RED
Added comment: Single family, two affected sibs with compound het variants reported.
Sources: Literature
Mendeliome v0.261 DNAJA1 Zornitza Stark Gene: dnaja1 has been classified as Red List (Low Evidence).
Mendeliome v0.261 DNAJA1 Zornitza Stark gene: DNAJA1 was added
gene: DNAJA1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: DNAJA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJA1 were set to 30972502
Phenotypes for gene: DNAJA1 were set to Intellectual disability; seizures
Review for gene: DNAJA1 was set to RED
Added comment: Single family with multiple affected individuals reported with bi-allelic truncating variant in this gene.
Sources: Literature
Mendeliome v0.260 DLL1 Zornitza Stark Gene: dll1 has been classified as Green List (High Evidence).
Mendeliome v0.260 DLL1 Zornitza Stark Phenotypes for gene: DLL1 were changed from to Intellectual disability; autism; seizures; variable brain abnormalities; scoliosis
Mendeliome v0.257 DLL1 Zornitza Stark reviewed gene: DLL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31353024; Phenotypes: Intellectual disability, autism, seizures, variable brain abnormalities, scoliosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.257 DDX6 Zornitza Stark Gene: ddx6 has been classified as Green List (High Evidence).
Mendeliome v0.257 DDX6 Zornitza Stark Classified gene: DDX6 as Green List (high evidence)
Mendeliome v0.257 DDX6 Zornitza Stark Gene: ddx6 has been classified as Green List (High Evidence).
Mendeliome v0.256 DDX6 Zornitza Stark gene: DDX6 was added
gene: DDX6 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: DDX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DDX6 were set to 31422817
Phenotypes for gene: DDX6 were set to Intellectual developmental disorder with impaired language and dysmorphic facies, MIM#618653
Review for gene: DDX6 was set to GREEN
Added comment: Five unrelated individuals reported with 5 different de novo heterozygous missense mutations in exon 11 of the DDX6 gene. All variants occurred at conserved residues in either the QxxR or V motifs within the second RecA-2 domain of the helicase core; this region is involved in RNA and/or ATP binding, suggesting functional consequences.
Sources: Literature
Mendeliome v0.255 CYFIP2 Zornitza Stark Gene: cyfip2 has been classified as Green List (High Evidence).
Mendeliome v0.252 CSDE1 Zornitza Stark Gene: csde1 has been classified as Green List (High Evidence).
Mendeliome v0.252 CSDE1 Zornitza Stark Classified gene: CSDE1 as Green List (high evidence)
Mendeliome v0.252 CSDE1 Zornitza Stark Gene: csde1 has been classified as Green List (High Evidence).
Mendeliome v0.250 CNTN6 Zornitza Stark Gene: cntn6 has been classified as Red List (Low Evidence).
Mendeliome v0.249 CMAS Zornitza Stark Gene: cmas has been classified as Red List (Low Evidence).
Mendeliome v0.249 CMAS Zornitza Stark gene: CMAS was added
gene: CMAS was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: CMAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CMAS were set to 31495922
Phenotypes for gene: CMAS were set to Intellectual disability
Review for gene: CMAS was set to RED
Added comment: Single family, no functional data.
Sources: Literature
Mendeliome v0.248 CDK8 Zornitza Stark Gene: cdk8 has been classified as Green List (High Evidence).
Mendeliome v0.248 CDK8 Zornitza Stark Classified gene: CDK8 as Green List (high evidence)
Mendeliome v0.248 CDK8 Zornitza Stark Gene: cdk8 has been classified as Green List (High Evidence).
Mendeliome v0.246 RNF113A Zornitza Stark Gene: rnf113a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.246 RNF113A Zornitza Stark Phenotypes for gene: RNF113A were changed from to Trichothiodystrophy 5, nonphotosensitive; OMIM #300953
Mendeliome v0.243 RNF113A Zornitza Stark Classified gene: RNF113A as Amber List (moderate evidence)
Mendeliome v0.243 RNF113A Zornitza Stark Gene: rnf113a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.242 RNF113A Zornitza Stark reviewed gene: RNF113A: Rating: AMBER; Mode of pathogenicity: None; Publications: 25612912, 31793730; Phenotypes: Trichothiodystrophy 5, nonphotosensitive, OMIM #300953; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.242 PUS7 Zornitza Stark Gene: pus7 has been classified as Green List (High Evidence).
Mendeliome v0.242 PUS7 Zornitza Stark Classified gene: PUS7 as Green List (high evidence)
Mendeliome v0.242 PUS7 Zornitza Stark Gene: pus7 has been classified as Green List (High Evidence).
Mendeliome v0.241 PUS7 Zornitza Stark gene: PUS7 was added
gene: PUS7 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS7 were set to 30526862; 30778726; 31583274
Phenotypes for gene: PUS7 were set to Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature; OMIM #618342
Review for gene: PUS7 was set to GREEN
Added comment: 11 patients from 6 families with ID, speech delay, short stature, microcephaly, and aggressive behavior, with homozygous PUS7 mutations, which segregated with disease.
Sources: Literature
Mendeliome v0.240 SEMA5A Zornitza Stark Gene: sema5a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.240 SEMA5A Zornitza Stark Classified gene: SEMA5A as Amber List (moderate evidence)
Mendeliome v0.240 SEMA5A Zornitza Stark Gene: sema5a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.239 SEMA5A Zornitza Stark gene: SEMA5A was added
gene: SEMA5A was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SEMA5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEMA5A were set to 26395558
Phenotypes for gene: SEMA5A were set to Intellectual disability; autism
Review for gene: SEMA5A was set to AMBER
Added comment: 1 patient with de novo translocation t(5;22)(p15.3;q11.21) and ASD and ID. At the translocation breakpoint on chromosome 5, they observed a 861-kb deletion encompassing the end of the SEMA5A gene. No functional studies.

2 patients with ASD and predicted deleterious heterozygous variants (maternally inherited). No functional studies
Sources: Literature
Mendeliome v0.238 SMARCC2 Zornitza Stark Gene: smarcc2 has been classified as Green List (High Evidence).
Mendeliome v0.238 SMARCC2 Zornitza Stark Classified gene: SMARCC2 as Green List (high evidence)
Mendeliome v0.238 SMARCC2 Zornitza Stark Gene: smarcc2 has been classified as Green List (High Evidence).
Mendeliome v0.237 SMARCC2 Zornitza Stark gene: SMARCC2 was added
gene: SMARCC2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SMARCC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCC2 were set to 30580808
Phenotypes for gene: SMARCC2 were set to Coffin-Siris syndrome 8; OMIM #618362
Review for gene: SMARCC2 was set to GREEN
Added comment: 15 individuals with variable degrees of neurodevelopmental delay, growth retardation, prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features.
Sources: Literature
Mendeliome v0.236 SMARCD1 Zornitza Stark Gene: smarcd1 has been classified as Green List (High Evidence).
Mendeliome v0.236 SMARCD1 Zornitza Stark Classified gene: SMARCD1 as Green List (high evidence)
Mendeliome v0.236 SMARCD1 Zornitza Stark Gene: smarcd1 has been classified as Green List (High Evidence).
Mendeliome v0.234 BRSK2 Zornitza Stark Gene: brsk2 has been classified as Green List (High Evidence).
Mendeliome v0.234 BRSK2 Zornitza Stark Classified gene: BRSK2 as Green List (high evidence)
Mendeliome v0.234 BRSK2 Zornitza Stark Gene: brsk2 has been classified as Green List (High Evidence).
Mendeliome v0.233 BRSK2 Zornitza Stark gene: BRSK2 was added
gene: BRSK2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: BRSK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRSK2 were set to 30879638
Phenotypes for gene: BRSK2 were set to Intellectual disability; autism
Review for gene: BRSK2 was set to GREEN
Added comment: Nine unrelated individuals with heterozygous variants in this gene; six confirmed de novo (parents available).
Sources: Literature
Mendeliome v0.232 BCORL1 Zornitza Stark Gene: bcorl1 has been classified as Green List (High Evidence).
Mendeliome v0.232 BCORL1 Zornitza Stark Classified gene: BCORL1 as Green List (high evidence)
Mendeliome v0.232 BCORL1 Zornitza Stark Gene: bcorl1 has been classified as Green List (High Evidence).
Mendeliome v0.230 BCL11B Zornitza Stark Gene: bcl11b has been classified as Green List (High Evidence).
Mendeliome v0.230 BCL11B Zornitza Stark Classified gene: BCL11B as Green List (high evidence)
Mendeliome v0.230 BCL11B Zornitza Stark Gene: bcl11b has been classified as Green List (High Evidence).
Mendeliome v0.228 ATN1 Zornitza Stark Gene: atn1 has been classified as Green List (High Evidence).
Mendeliome v0.225 APC2 Zornitza Stark Gene: apc2 has been classified as Green List (High Evidence).
Mendeliome v0.225 APC2 Zornitza Stark Classified gene: APC2 as Green List (high evidence)
Mendeliome v0.225 APC2 Zornitza Stark Gene: apc2 has been classified as Green List (High Evidence).
Mendeliome v0.224 APC2 Zornitza Stark gene: APC2 was added
gene: APC2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APC2 were set to 31585108
Phenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10, MIM#618677
Review for gene: APC2 was set to GREEN
Added comment: 12 individuals from 8 unrelated families; intellectual disability, seizures, cortical dysplasia including posterior to anterior predominant pattern of lissencephaly, heterotopias, paucity of white matter, thin corpus callosum.
Sources: Literature
Mendeliome v0.223 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Green List (High Evidence).
Mendeliome v0.223 ALKBH8 Zornitza Stark Classified gene: ALKBH8 as Green List (high evidence)
Mendeliome v0.223 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Green List (High Evidence).
Mendeliome v0.222 ALKBH8 Zornitza Stark gene: ALKBH8 was added
gene: ALKBH8 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ALKBH8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALKBH8 were set to 31079898
Phenotypes for gene: ALKBH8 were set to Intellectual developmental disorder, autosomal recessive 71, MIM#618504
Review for gene: ALKBH8 was set to GREEN
Added comment: Two families and functional data.
Sources: Literature
Mendeliome v0.221 ACTL6B Zornitza Stark Gene: actl6b has been classified as Green List (High Evidence).
Mendeliome v0.221 ACTL6B Zornitza Stark Classified gene: ACTL6B as Green List (high evidence)
Mendeliome v0.221 ACTL6B Zornitza Stark Gene: actl6b has been classified as Green List (High Evidence).
Mendeliome v0.219 SELENOI Zornitza Stark Gene: selenoi has been classified as Amber List (Moderate Evidence).
Mendeliome v0.217 SELENOI Zornitza Stark Classified gene: SELENOI as Amber List (moderate evidence)
Mendeliome v0.217 SELENOI Zornitza Stark Gene: selenoi has been classified as Amber List (Moderate Evidence).
Mendeliome v0.216 PPP1R21 Zornitza Stark Gene: ppp1r21 has been classified as Green List (High Evidence).
Mendeliome v0.216 PPP1R21 Zornitza Stark Classified gene: PPP1R21 as Green List (high evidence)
Mendeliome v0.216 PPP1R21 Zornitza Stark Gene: ppp1r21 has been classified as Green List (High Evidence).
Mendeliome v0.214 PHC1 Zornitza Stark Gene: phc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.213 PHC1 Zornitza Stark Phenotypes for gene: PHC1 were changed from to Microcephaly 11, primary, autosomal recessive, MIM#615414
Mendeliome v0.211 PHC1 Zornitza Stark Classified gene: PHC1 as Amber List (moderate evidence)
Mendeliome v0.211 PHC1 Zornitza Stark Gene: phc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.210 PHC1 Zornitza Stark reviewed gene: PHC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23418308; Phenotypes: Microcephaly 11, primary, autosomal recessive, MIM#615414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.210 TBX4 Zornitza Stark Gene: tbx4 has been classified as Green List (High Evidence).
Mendeliome v0.210 TBX4 Zornitza Stark Phenotypes for gene: TBX4 were changed from to Posterior amelia with pelvis and pulmonary hypoplasia; small patella syndrome
Mendeliome v0.207 TBX4 Zornitza Stark reviewed gene: TBX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31761294; Phenotypes: Posterior amelia with pelvis and pulmonary hypoplasia, small patella syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.207 OXR1 Zornitza Stark Gene: oxr1 has been classified as Green List (High Evidence).
Mendeliome v0.207 OXR1 Zornitza Stark Classified gene: OXR1 as Green List (high evidence)
Mendeliome v0.207 OXR1 Zornitza Stark Gene: oxr1 has been classified as Green List (High Evidence).
Mendeliome v0.205 TMX2 Zornitza Stark Gene: tmx2 has been classified as Green List (High Evidence).
Mendeliome v0.202 NOP10 Zornitza Stark Gene: nop10 has been classified as Red List (Low Evidence).
Mendeliome v0.202 NOP10 Zornitza Stark Phenotypes for gene: NOP10 were changed from to Dyskeratosis congenita, autosomal recessive 1, MIM#224230
Mendeliome v0.199 NOP10 Zornitza Stark Classified gene: NOP10 as Red List (low evidence)
Mendeliome v0.199 NOP10 Zornitza Stark Gene: nop10 has been classified as Red List (Low Evidence).
Mendeliome v0.197 NIN Zornitza Stark Gene: nin has been classified as Red List (Low Evidence).
Mendeliome v0.194 NIN Zornitza Stark Classified gene: NIN as Red List (low evidence)
Mendeliome v0.194 NIN Zornitza Stark Gene: nin has been classified as Red List (Low Evidence).
Mendeliome v0.193 NECAP1 Zornitza Stark Gene: necap1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.190 NECAP1 Zornitza Stark Classified gene: NECAP1 as Amber List (moderate evidence)
Mendeliome v0.190 NECAP1 Zornitza Stark Gene: necap1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.189 EXT2 Zornitza Stark Phenotypes for gene: EXT2 were changed from to Seizures, scoliosis, and macrocephaly syndrome, MIM#616682
Mendeliome v0.186 NDUFB9 Zornitza Stark Gene: ndufb9 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.183 NDUFB9 Zornitza Stark Classified gene: NDUFB9 as Amber List (moderate evidence)
Mendeliome v0.183 NDUFB9 Zornitza Stark Gene: ndufb9 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.182 MRPS16 Zornitza Stark Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.182 MRPS16 Zornitza Stark Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.179 MRPS16 Zornitza Stark Classified gene: MRPS16 as Amber List (moderate evidence)
Mendeliome v0.179 MRPS16 Zornitza Stark Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.177 MRPL3 Zornitza Stark Gene: mrpl3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.174 MRPL3 Zornitza Stark Classified gene: MRPL3 as Amber List (moderate evidence)
Mendeliome v0.174 MRPL3 Zornitza Stark Gene: mrpl3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.172 WDR91 Sebastian Lunke Gene: wdr91 has been classified as Red List (Low Evidence).
Mendeliome v0.172 WDR91 Sebastian Lunke Classified gene: WDR91 as Red List (low evidence)
Mendeliome v0.172 WDR91 Sebastian Lunke Gene: wdr91 has been classified as Red List (Low Evidence).
Mendeliome v0.170 CDK16 Zornitza Stark Gene: cdk16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.170 CDK16 Zornitza Stark Classified gene: CDK16 as Amber List (moderate evidence)
Mendeliome v0.170 CDK16 Zornitza Stark Gene: cdk16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.169 CDK16 Zornitza Stark gene: CDK16 was added
gene: CDK16 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: CDK16 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CDK16 were set to 25644381
Phenotypes for gene: CDK16 were set to Intellectual disability
Review for gene: CDK16 was set to AMBER
Added comment: Single family described in this manuscript describing multiple candidate genes for XLID.
Sources: Expert list
Mendeliome v0.168 MIR17HG Zornitza Stark Gene: mir17hg has been classified as Green List (High Evidence).
Mendeliome v0.168 MIR17HG Zornitza Stark Classified gene: MIR17HG as Green List (high evidence)
Mendeliome v0.168 MIR17HG Zornitza Stark Gene: mir17hg has been classified as Green List (High Evidence).
Mendeliome v0.166 KLF7 Zornitza Stark Gene: klf7 has been classified as Green List (High Evidence).
Mendeliome v0.166 KLF7 Zornitza Stark Classified gene: KLF7 as Green List (high evidence)
Mendeliome v0.166 KLF7 Zornitza Stark Gene: klf7 has been classified as Green List (High Evidence).
Mendeliome v0.164 KANK1 Zornitza Stark Gene: kank1 has been classified as Red List (Low Evidence).
Mendeliome v0.161 KANK1 Zornitza Stark Classified gene: KANK1 as Red List (low evidence)
Mendeliome v0.161 KANK1 Zornitza Stark Gene: kank1 has been classified as Red List (Low Evidence).
Mendeliome v0.160 IGF2 Zornitza Stark Gene: igf2 has been classified as Green List (High Evidence).
Mendeliome v0.156 GORAB Zornitza Stark Gene: gorab has been classified as Green List (High Evidence).
Mendeliome v0.154 GAD1 Zornitza Stark Gene: gad1 has been classified as Red List (Low Evidence).
Mendeliome v0.151 GAD1 Zornitza Stark Classified gene: GAD1 as Red List (low evidence)
Mendeliome v0.151 GAD1 Zornitza Stark Gene: gad1 has been classified as Red List (Low Evidence).
Mendeliome v0.149 FRMPD4 Zornitza Stark Gene: frmpd4 has been classified as Green List (High Evidence).
Mendeliome v0.149 FRMPD4 Zornitza Stark Classified gene: FRMPD4 as Green List (high evidence)
Mendeliome v0.149 FRMPD4 Zornitza Stark Gene: frmpd4 has been classified as Green List (High Evidence).
Mendeliome v0.147 FBXO31 Zornitza Stark Gene: fbxo31 has been classified as Red List (Low Evidence).
Mendeliome v0.147 FBXO31 Zornitza Stark gene: FBXO31 was added
gene: FBXO31 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: FBXO31 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXO31 were set to 24623383
Phenotypes for gene: FBXO31 were set to Mental retardation, autosomal recessive 45, MIM#615979
Review for gene: FBXO31 was set to RED
Added comment: Single consanguineous family reported with homozygous truncating variant, limited functional evidence.
Sources: Expert list
Mendeliome v0.146 CFAP57 Sebastian Lunke Classified gene: CFAP57 as Amber List (moderate evidence)
Mendeliome v0.146 CFAP57 Sebastian Lunke Gene: cfap57 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.145 CFAP57 Sebastian Lunke Gene: cfap57 has been classified as Green List (High Evidence).
Mendeliome v0.145 EXOSC2 Zornitza Stark Gene: exosc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.142 EXOSC2 Zornitza Stark Classified gene: EXOSC2 as Amber List (moderate evidence)
Mendeliome v0.142 EXOSC2 Zornitza Stark Gene: exosc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.140 ERMARD Zornitza Stark Added comment: Comment when marking as ready: Single affected individual described in heterozygous missense in this gene; rest of evidence is based on cytogenetic data.
Mendeliome v0.140 ERMARD Zornitza Stark Gene: ermard has been classified as Red List (Low Evidence).
Mendeliome v0.137 ERMARD Zornitza Stark Classified gene: ERMARD as Red List (low evidence)
Mendeliome v0.137 ERMARD Zornitza Stark Gene: ermard has been classified as Red List (Low Evidence).
Mendeliome v0.136 EOMES Zornitza Stark Gene: eomes has been classified as Red List (Low Evidence).
Mendeliome v0.133 EOMES Zornitza Stark Classified gene: EOMES as Red List (low evidence)
Mendeliome v0.133 EOMES Zornitza Stark Gene: eomes has been classified as Red List (Low Evidence).
Mendeliome v0.131 DPYS Zornitza Stark Gene: dpys has been classified as Green List (High Evidence).
Mendeliome v0.129 DNAJC12 Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence).
Mendeliome v0.126 DLG4 Zornitza Stark Gene: dlg4 has been classified as Red List (Low Evidence).
Mendeliome v0.126 DLG4 Zornitza Stark Classified gene: DLG4 as Red List (low evidence)
Mendeliome v0.126 DLG4 Zornitza Stark Gene: dlg4 has been classified as Red List (Low Evidence).
Mendeliome v0.125 DDB1 Zornitza Stark Gene: ddb1 has been classified as Green List (High Evidence).
Mendeliome v0.123 CTNNA2 Zornitza Stark Gene: ctnna2 has been classified as Green List (High Evidence).
Mendeliome v0.123 CTNNA2 Zornitza Stark Phenotypes for gene: CTNNA2 were changed from to Cortical dysplasia, complex, with other brain malformations 9, MIM#618174
Mendeliome v0.119 CP Zornitza Stark Gene: cp has been classified as Green List (High Evidence).
Mendeliome v0.117 COX4I2 Zornitza Stark Gene: cox4i2 has been classified as Green List (High Evidence).
Mendeliome v0.117 COX4I2 Zornitza Stark Phenotypes for gene: COX4I2 were changed from to Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714
Mendeliome v0.113 PDIA2 Zornitza Stark Gene: pdia2 has been classified as Red List (Low Evidence).
Mendeliome v0.110 PDIA2 Zornitza Stark Classified gene: PDIA2 as Red List (low evidence)
Mendeliome v0.110 PDIA2 Zornitza Stark Gene: pdia2 has been classified as Red List (Low Evidence).
Mendeliome v0.109 COX14 Zornitza Stark Gene: cox14 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.106 COX14 Zornitza Stark Classified gene: COX14 as Amber List (moderate evidence)
Mendeliome v0.106 COX14 Zornitza Stark Gene: cox14 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.104 CNTN4 Zornitza Stark Gene: cntn4 has been classified as Red List (Low Evidence).
Mendeliome v0.104 CNTN4 Zornitza Stark Classified gene: CNTN4 as Red List (low evidence)
Mendeliome v0.104 CNTN4 Zornitza Stark Gene: cntn4 has been classified as Red List (Low Evidence).
Mendeliome v0.102 CEP63 Zornitza Stark Gene: cep63 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.99 CEP63 Zornitza Stark Classified gene: CEP63 as Amber List (moderate evidence)
Mendeliome v0.99 CEP63 Zornitza Stark Gene: cep63 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.97 CDK6 Zornitza Stark Gene: cdk6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.97 CDK6 Zornitza Stark Phenotypes for gene: CDK6 were changed from to Microcephaly 12, primary, autosomal recessive, MIM#616080
Mendeliome v0.94 CDK6 Zornitza Stark Classified gene: CDK6 as Amber List (moderate evidence)
Mendeliome v0.94 CDK6 Zornitza Stark Gene: cdk6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.92 CD96 Zornitza Stark Gene: cd96 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.89 CD96 Zornitza Stark Classified gene: CD96 as Amber List (moderate evidence)
Mendeliome v0.89 CD96 Zornitza Stark Gene: cd96 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.87 WDFY3 Zornitza Stark Gene: wdfy3 has been classified as Green List (High Evidence).
Mendeliome v0.83 SALL3 Zornitza Stark Gene: sall3 has been classified as Red List (Low Evidence).
Mendeliome v0.83 SALL3 Zornitza Stark Classified gene: SALL3 as Red List (low evidence)
Mendeliome v0.83 SALL3 Zornitza Stark Gene: sall3 has been classified as Red List (Low Evidence).
Mendeliome v0.82 CCDC8 Zornitza Stark Gene: ccdc8 has been classified as Green List (High Evidence).
Mendeliome v0.79 CCDC78 Zornitza Stark Gene: ccdc78 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.76 CCDC78 Zornitza Stark Classified gene: CCDC78 as Amber List (moderate evidence)
Mendeliome v0.76 CCDC78 Zornitza Stark Gene: ccdc78 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.74 CACNA1G Zornitza Stark Gene: cacna1g has been classified as Green List (High Evidence).
Mendeliome v0.69 CA8 Zornitza Stark Gene: ca8 has been classified as Green List (High Evidence).
Mendeliome v0.65 BDNF Zornitza Stark Gene: bdnf has been classified as Red List (Low Evidence).
Mendeliome v0.65 BDNF Zornitza Stark Classified gene: BDNF as Red List (low evidence)
Mendeliome v0.65 BDNF Zornitza Stark Gene: bdnf has been classified as Red List (Low Evidence).
Mendeliome v0.64 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.64 BBIP1 Zornitza Stark Classified gene: BBIP1 as Amber List (moderate evidence)
Mendeliome v0.64 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.62 ADD3 Zornitza Stark Gene: add3 has been classified as Green List (High Evidence).
Mendeliome v0.62 ADD3 Zornitza Stark Classified gene: ADD3 as Green List (high evidence)
Mendeliome v0.62 ADD3 Zornitza Stark Gene: add3 has been classified as Green List (High Evidence).
Mendeliome v0.61 ADD3 Zornitza Stark gene: ADD3 was added
gene: ADD3 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: ADD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADD3 were set to 29768408; 23836506
Phenotypes for gene: ADD3 were set to Cerebral palsy, spastic quadriplegic, 3, MIM#617008
Added comment: Four families reported in the literature with bi-allelic variants in this gene causing intellectual disability.
Sources: Expert list
Mendeliome v0.60 TENM1 Zornitza Stark Gene: tenm1 has been classified as Red List (Low Evidence).
Mendeliome v0.60 TENM1 Zornitza Stark Classified gene: TENM1 as Red List (low evidence)
Mendeliome v0.60 TENM1 Zornitza Stark Gene: tenm1 has been classified as Red List (Low Evidence).
Mendeliome v0.58 MYEF2 Zornitza Stark Gene: myef2 has been classified as Red List (Low Evidence).
Mendeliome v0.58 MYEF2 Zornitza Stark Classified gene: MYEF2 as Red List (low evidence)
Mendeliome v0.58 MYEF2 Zornitza Stark Gene: myef2 has been classified as Red List (Low Evidence).
Mendeliome v0.56 MYH7B Zornitza Stark Gene: myh7b has been classified as Red List (Low Evidence).
Mendeliome v0.56 MYH7B Zornitza Stark Classified gene: MYH7B as Red List (low evidence)
Mendeliome v0.56 MYH7B Zornitza Stark Gene: myh7b has been classified as Red List (Low Evidence).
Mendeliome v0.55 SCRIB Zornitza Stark Classified gene: SCRIB as Red List (low evidence)
Mendeliome v0.55 SCRIB Zornitza Stark Gene: scrib has been classified as Red List (Low Evidence).
Mendeliome v0.53 SCRIB Zornitza Stark Gene: scrib has been classified as Green List (High Evidence).
Mendeliome v0.53 TTI1 Sebastian Lunke Gene: tti1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.53 TTI1 Sebastian Lunke Classified gene: TTI1 as Amber List (moderate evidence)
Mendeliome v0.53 TTI1 Sebastian Lunke Added comment: Comment on list classification: Some patient evidence for association with ID, no patients identified to support association with dystonia or ataxia
Mendeliome v0.53 TTI1 Sebastian Lunke Gene: tti1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.51 SLC27A5 Zornitza Stark Gene: slc27a5 has been classified as Red List (Low Evidence).
Mendeliome v0.51 SLC27A5 Zornitza Stark Classified gene: SLC27A5 as Red List (low evidence)
Mendeliome v0.51 SLC27A5 Zornitza Stark Gene: slc27a5 has been classified as Red List (Low Evidence).
Mendeliome v0.49 TLR4 Zornitza Stark Gene: tlr4 has been classified as Red List (Low Evidence).
Mendeliome v0.49 TLR4 Zornitza Stark Classified gene: TLR4 as Red List (low evidence)
Mendeliome v0.49 TLR4 Zornitza Stark Gene: tlr4 has been classified as Red List (Low Evidence).
Mendeliome v0.47 ERG Zornitza Stark Gene: erg has been classified as Red List (Low Evidence).
Mendeliome v0.47 ERG Zornitza Stark Classified gene: ERG as Red List (low evidence)
Mendeliome v0.47 ERG Zornitza Stark Gene: erg has been classified as Red List (Low Evidence).
Mendeliome v0.46 TNRC6B Zornitza Stark Gene: tnrc6b has been classified as Red List (Low Evidence).
Mendeliome v0.46 TNRC6B Zornitza Stark Classified gene: TNRC6B as Red List (low evidence)
Mendeliome v0.46 TNRC6B Zornitza Stark Gene: tnrc6b has been classified as Red List (Low Evidence).
Mendeliome v0.43 ZNF526 Zornitza Stark Gene: znf526 has been classified as Red List (Low Evidence).
Mendeliome v0.43 ZNF526 Zornitza Stark Classified gene: ZNF526 as Red List (low evidence)
Mendeliome v0.43 ZNF526 Zornitza Stark Added comment: Comment on list classification: Found unpublished abstract linking to AR intellectual disability in consanguineous Iranian population, no functional data provided.
Mendeliome v0.43 ZNF526 Zornitza Stark Gene: znf526 has been classified as Red List (Low Evidence).
Mendeliome v0.42 ZNF526 Zornitza Stark Classified gene: ZNF526 as Red List (low evidence)
Mendeliome v0.42 ZNF526 Zornitza Stark Gene: znf526 has been classified as Red List (Low Evidence).
Mendeliome v0.41 HOXD4 Zornitza Stark Gene: hoxd4 has been classified as Red List (Low Evidence).
Mendeliome v0.41 HOXD4 Zornitza Stark Classified gene: HOXD4 as Red List (low evidence)
Mendeliome v0.41 HOXD4 Zornitza Stark Gene: hoxd4 has been classified as Red List (Low Evidence).
Mendeliome v0.39 PAK6 Zornitza Stark Gene: pak6 has been classified as Red List (Low Evidence).
Mendeliome v0.39 PAK6 Zornitza Stark Classified gene: PAK6 as Red List (low evidence)
Mendeliome v0.39 PAK6 Zornitza Stark Gene: pak6 has been classified as Red List (Low Evidence).
Mendeliome v0.38 TIRAP Zornitza Stark Gene: tirap has been classified as Red List (Low Evidence).
Mendeliome v0.38 TIRAP Zornitza Stark Classified gene: TIRAP as Red List (low evidence)
Mendeliome v0.38 TIRAP Zornitza Stark Gene: tirap has been classified as Red List (Low Evidence).
Mendeliome v0.37 G6PC2 Zornitza Stark Gene: g6pc2 has been classified as Red List (Low Evidence).
Mendeliome v0.37 G6PC2 Zornitza Stark Classified gene: G6PC2 as Red List (low evidence)
Mendeliome v0.37 G6PC2 Zornitza Stark Gene: g6pc2 has been classified as Red List (Low Evidence).
Mendeliome v0.36 CRYL1 Zornitza Stark Gene: cryl1 has been classified as Red List (Low Evidence).
Mendeliome v0.36 CRYL1 Zornitza Stark Classified gene: CRYL1 as Red List (low evidence)
Mendeliome v0.36 CRYL1 Zornitza Stark Gene: cryl1 has been classified as Red List (Low Evidence).
Mendeliome v0.35 IQCG Zornitza Stark Gene: iqcg has been classified as Red List (Low Evidence).
Mendeliome v0.35 IQCG Zornitza Stark Classified gene: IQCG as Red List (low evidence)
Mendeliome v0.35 IQCG Zornitza Stark Gene: iqcg has been classified as Red List (Low Evidence).
Mendeliome v0.34 FBF1 Zornitza Stark Gene: fbf1 has been classified as Red List (Low Evidence).
Mendeliome v0.34 FBF1 Zornitza Stark Classified gene: FBF1 as Red List (low evidence)
Mendeliome v0.34 FBF1 Zornitza Stark Gene: fbf1 has been classified as Red List (Low Evidence).
Mendeliome v0.33 RNF135 Zornitza Stark Gene: rnf135 has been classified as Red List (Low Evidence).
Mendeliome v0.33 RNF135 Zornitza Stark Classified gene: RNF135 as Red List (low evidence)
Mendeliome v0.33 RNF135 Zornitza Stark Gene: rnf135 has been classified as Red List (Low Evidence).
Mendeliome v0.31 LAMC1 Zornitza Stark Gene: lamc1 has been classified as Red List (Low Evidence).
Mendeliome v0.31 LAMC1 Zornitza Stark Classified gene: LAMC1 as Red List (low evidence)
Mendeliome v0.31 LAMC1 Zornitza Stark Gene: lamc1 has been classified as Red List (Low Evidence).
Mendeliome v0.30 HCN2 Zornitza Stark Gene: hcn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.30 HCN2 Zornitza Stark Classified gene: HCN2 as Amber List (moderate evidence)
Mendeliome v0.30 HCN2 Zornitza Stark Gene: hcn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.28 B3GNT2 Zornitza Stark Gene: b3gnt2 has been classified as Red List (Low Evidence).
Mendeliome v0.28 B3GNT2 Zornitza Stark Classified gene: B3GNT2 as Red List (low evidence)
Mendeliome v0.28 B3GNT2 Zornitza Stark Gene: b3gnt2 has been classified as Red List (Low Evidence).
Mendeliome v0.27 H3F3B Zornitza Stark Gene: h3f3b has been classified as Red List (Low Evidence).
Mendeliome v0.27 H3F3B Zornitza Stark Classified gene: H3F3B as Red List (low evidence)
Mendeliome v0.27 H3F3B Zornitza Stark Gene: h3f3b has been classified as Red List (Low Evidence).
Mendeliome v0.24 MASTL Zornitza Stark Gene: mastl has been classified as Amber List (Moderate Evidence).
Mendeliome v0.24 MASTL Zornitza Stark Classified gene: MASTL as Amber List (moderate evidence)
Mendeliome v0.24 MASTL Zornitza Stark Gene: mastl has been classified as Amber List (Moderate Evidence).
Mendeliome v0.23 C3orf58 Zornitza Stark Gene: c3orf58 has been classified as Red List (Low Evidence).
Mendeliome v0.23 C3orf58 Zornitza Stark Classified gene: C3orf58 as Red List (low evidence)
Mendeliome v0.23 C3orf58 Zornitza Stark Gene: c3orf58 has been classified as Red List (Low Evidence).
Mendeliome v0.22 PCLO Zornitza Stark Gene: pclo has been classified as Amber List (Moderate Evidence).
Mendeliome v0.22 PCLO Zornitza Stark Classified gene: PCLO as Amber List (moderate evidence)
Mendeliome v0.22 PCLO Zornitza Stark Gene: pclo has been classified as Amber List (Moderate Evidence).
Mendeliome v0.17 PTPRR Zornitza Stark Classified gene: PTPRR as Red List (low evidence)
Mendeliome v0.17 PTPRR Zornitza Stark Gene: ptprr has been classified as Red List (Low Evidence).
Mendeliome v0.16 ARHGEF15 Zornitza Stark Gene: arhgef15 has been classified as Red List (Low Evidence).
Mendeliome v0.16 ARHGEF15 Zornitza Stark Classified gene: ARHGEF15 as Red List (low evidence)
Mendeliome v0.16 ARHGEF15 Zornitza Stark Gene: arhgef15 has been classified as Red List (Low Evidence).
Mendeliome v0.15 KDM6B Zornitza Stark Gene: kdm6b has been classified as Green List (High Evidence).
Mendeliome v0.15 KDM6B Zornitza Stark Classified gene: KDM6B as Green List (high evidence)
Mendeliome v0.15 KDM6B Zornitza Stark Gene: kdm6b has been classified as Green List (High Evidence).
Mendeliome v0.11 PNPLA4 Zornitza Stark Classified gene: PNPLA4 as Amber List (moderate evidence)
Mendeliome v0.11 PNPLA4 Zornitza Stark Gene: pnpla4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9 LLGL1 Zornitza Stark Gene: llgl1 has been classified as Red List (Low Evidence).
Mendeliome v0.9 LLGL1 Zornitza Stark Classified gene: LLGL1 as Red List (low evidence)
Mendeliome v0.9 LLGL1 Zornitza Stark Gene: llgl1 has been classified as Red List (Low Evidence).
Mendeliome v0.8 STAT4 Zornitza Stark Classified gene: STAT4 as Red List (low evidence)
Mendeliome v0.8 STAT4 Zornitza Stark Gene: stat4 has been classified as Red List (Low Evidence).
Mendeliome v0.7 STAT4 Zornitza Stark Classified gene: STAT4 as Red List (low evidence)
Mendeliome v0.7 STAT4 Zornitza Stark Gene: stat4 has been classified as Red List (Low Evidence).
Mendeliome v0.6 ASTN2 Zornitza Stark Gene: astn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6 ASTN2 Zornitza Stark Classified gene: ASTN2 as Amber List (moderate evidence)
Mendeliome v0.6 ASTN2 Zornitza Stark Gene: astn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5 ASTN2 Zornitza Stark Classified gene: ASTN2 as Amber List (moderate evidence)
Mendeliome v0.5 ASTN2 Zornitza Stark Gene: astn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4 DPP10 Zornitza Stark Gene: dpp10 has been classified as Red List (Low Evidence).
Mendeliome v0.4 DPP10 Zornitza Stark Classified gene: DPP10 as Red List (low evidence)
Mendeliome v0.4 DPP10 Zornitza Stark Gene: dpp10 has been classified as Red List (Low Evidence).
Mendeliome v0.3 DPP10 Zornitza Stark Classified gene: DPP10 as Red List (low evidence)
Mendeliome v0.3 DPP10 Zornitza Stark Gene: dpp10 has been classified as Red List (Low Evidence).
Mendeliome v0.2 DLEC1 Zornitza Stark Gene: dlec1 has been classified as Red List (Low Evidence).
Mendeliome v0.2 DLEC1 Zornitza Stark Classified gene: DLEC1 as Red List (low evidence)
Mendeliome v0.2 DLEC1 Zornitza Stark Gene: dlec1 has been classified as Red List (Low Evidence).
Mendeliome v0.1 DLEC1 Zornitza Stark Classified gene: DLEC1 as Red List (low evidence)
Mendeliome v0.1 DLEC1 Zornitza Stark Gene: dlec1 has been classified as Red List (Low Evidence).
Mendeliome v0.0 SIX6 Zornitza Stark gene: SIX6 was added
gene: SIX6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SIX6 was set to Unknown
Mendeliome v0.0 SIX5 Zornitza Stark gene: SIX5 was added
gene: SIX5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SIX5 was set to Unknown
Mendeliome v0.0 SIX3 Zornitza Stark gene: SIX3 was added
gene: SIX3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SIX3 was set to Unknown
Mendeliome v0.0 SIX2 Zornitza Stark gene: SIX2 was added
gene: SIX2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SIX2 was set to Unknown
Mendeliome v0.0 SIX1 Zornitza Stark gene: SIX1 was added
gene: SIX1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SIX1 was set to Unknown
Mendeliome v0.0 SIN3A Zornitza Stark gene: SIN3A was added
gene: SIN3A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SIN3A was set to Unknown
Mendeliome v0.0 SIM1 Zornitza Stark gene: SIM1 was added
gene: SIM1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SIM1 was set to Unknown
Mendeliome v0.0 SIL1 Zornitza Stark gene: SIL1 was added
gene: SIL1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SIL1 was set to Unknown
Mendeliome v0.0 SIK1 Zornitza Stark gene: SIK1 was added
gene: SIK1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SIK1 was set to Unknown
Mendeliome v0.0 SIGMAR1 Zornitza Stark gene: SIGMAR1 was added
gene: SIGMAR1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SIGMAR1 was set to Unknown
Mendeliome v0.0 SIAE Zornitza Stark gene: SIAE was added
gene: SIAE was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SIAE was set to Unknown
Mendeliome v0.0 SI Zornitza Stark gene: SI was added
gene: SI was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SI was set to Unknown
Mendeliome v0.0 ASIP Zornitza Stark gene: ASIP was added
gene: ASIP was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ASIP was set to Unknown