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Autism v0.198 IQSEC2 Ain Roesley Phenotypes for gene: IQSEC2 were changed from Intellectual developmental disorder, X-linked 1 MIM#309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347 to Intellectual developmental disorder, X-linked 1 MIM#309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347
Autism v0.198 IQSEC2 Ain Roesley Phenotypes for gene: IQSEC2 were changed from Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347 to Intellectual developmental disorder, X-linked 1 MIM#309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347
Autism v0.197 SLC4A10 Zornitza Stark Phenotypes for gene: SLC4A10 were changed from Neurodevelopmental disorderMONDO:0700092, SLC4A10-related to Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746
Autism v0.196 SLC4A10 Zornitza Stark reviewed gene: SLC4A10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autism v0.196 TMLHE Bryony Thompson Classified gene: TMLHE as Red List (low evidence)
Autism v0.196 TMLHE Bryony Thompson Added comment: Comment on list classification: ClinGen Disputed gene-disease association Classification - 03/02/2021 by ID & Autism GCEP: https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a780ea6-ad4e-417a-a596-27188e327aad-2021-03-02T050000.000Z?page=1&size=25&search=
Autism v0.196 TMLHE Bryony Thompson Gene: tmlhe has been classified as Red List (Low Evidence).
Autism v0.195 KDM5B Zornitza Stark Phenotypes for gene: KDM5B were changed from Intellectual disability and/or autism, autosomal dominant to Neurodevelopmental disorder (MONDO#0700092), KDM5B-related, autosomal dominant; Intellectual developmental disorder, autosomal recessive 65 (MIM#618109)
Autism v0.194 KDM5B Zornitza Stark Mode of inheritance for gene: KDM5B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autism v0.193 KDM5B Lauren Rogers reviewed gene: KDM5B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder (MONDO#0700092), KDM5B-related, Intellectual developmental disorder, autosomal recessive 65 (MIM#618109); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autism v0.193 CSDE1 Zornitza Stark Phenotypes for gene: CSDE1 were changed from Autism; intellectual disability; seizures; macrocephaly to Neurodevelopmental disorder, MONDO:0700092, CSDE1-related
Autism v0.192 CSDE1 Zornitza Stark edited their review of gene: CSDE1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CSDE1-related
Autism v0.192 NCKAP1 Ain Roesley Phenotypes for gene: NCKAP1 were changed from Intellectual disability; autism to Neurodevelopmental disorder (MONDO#0700092)​​​​​​​, NCKAP1-related
Autism v0.191 SLC4A10 Krithika Murali Classified gene: SLC4A10 as Green List (high evidence)
Autism v0.191 SLC4A10 Krithika Murali Gene: slc4a10 has been classified as Green List (High Evidence).
Autism v0.190 SLC4A10 Krithika Murali Classified gene: SLC4A10 as Green List (high evidence)
Autism v0.190 SLC4A10 Krithika Murali Gene: slc4a10 has been classified as Green List (High Evidence).
Autism v0.190 SLC4A10 Krithika Murali Classified gene: SLC4A10 as Green List (high evidence)
Autism v0.190 SLC4A10 Krithika Murali Gene: slc4a10 has been classified as Green List (High Evidence).
Autism v0.189 SLC4A10 Krithika Murali Marked gene: SLC4A10 as ready
Autism v0.189 SLC4A10 Krithika Murali Gene: slc4a10 has been classified as Red List (Low Evidence).
Autism v0.189 SLC4A10 Krithika Murali gene: SLC4A10 was added
gene: SLC4A10 was added to Autism. Sources: Literature
Mode of inheritance for gene: SLC4A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A10 were set to PMID: 37459438
Phenotypes for gene: SLC4A10 were set to Neurodevelopmental disorderMONDO:0700092, SLC4A10-related
Review for gene: SLC4A10 was set to GREEN
Added comment: PMID: 37459438 Fasham et al 2023 (Brain) report 10 affected individuals from 5 unrelated families with biallelic LoF variants in this gene with a novel neurodevelopmental disorder.

Phenotypic features include hypotonia in infancy, delayed psychomotor development, typically severe ID, progressive postnatal microcephaly, ASD traits, corpus callosal abnormalities and 'slit-like' lateral ventricles. These phenotypic features were recapitulated in knockout mice with additional supportive functional studies.

Isolated seizures was reported in 2/10 cases.
Sources: Literature
Autism v0.188 UNC13A Ain Roesley commented on gene: UNC13A
Autism v0.188 NLGN4X Elena Savva commented on gene: NLGN4X
Autism v0.188 NLGN4X Elena Savva Classified gene: NLGN4X as Green List (high evidence)
Autism v0.188 NLGN4X Elena Savva Gene: nlgn4x has been classified as Green List (High Evidence).
Autism v0.187 NLGN4X Zornitza Stark Marked gene: NLGN4X as ready
Autism v0.187 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Amber List (Moderate Evidence).
Autism v0.187 NLGN4X Zornitza Stark Classified gene: NLGN4X as Amber List (moderate evidence)
Autism v0.187 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Amber List (Moderate Evidence).
Autism v0.186 NLGN4X Zornitza Stark reviewed gene: NLGN4X: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked - MIM#300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Autism v0.186 NLGN4X Krithika Murali gene: NLGN4X was added
gene: NLGN4X was added to Autism. Sources: Expert list
Mode of inheritance for gene: NLGN4X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: NLGN4X were set to PMID:26350204; PMID:14963808; PMID:12669065; PMID:23352163; PMID:28263302; PMID:16648374
Phenotypes for gene: NLGN4X were set to Intellectual developmental disorder, X-linked - MIM#300495
Review for gene: NLGN4X was set to GREEN
Added comment: ClinGen ID/Autism GCEP 1/8/2018: Definitive association. Decision was made to lump into X-linked complex neurodevelopmental disorder encompassing autism spectrum disorders, intellectual disability, attention deficit hyperactivity disorder (ADHD), and/or cerebral palsy phenotypes.

Clinvar P/LP SNV's identified through clinical testing entries reviewed:
c.1747C>T (p.Arg583Trp) - dev delay, ASD, ADHD, cardiac defects, dysmorphism
c.625+1G>A - no disease assertion provided (2022 entry)
c.334dup (p.Gln112fs) - no clinical information
c.301C>T (p.Arg101Ter) - 3 entries - x1 ASD susceptibility disease assertion - reported in an individual with BCS1L variant also who had short stature, failure to thrive, rickets, Fanconi syndrome, delayed motor milestones, absent speech, developmental regression, intellectual disability, hypotonia, seizure disorder, gait ataxia, abnormal movements (laughing behavior and tongue protrusion), dysmorphic features, microcephaly, history of seizure disorder.

Decipher - LP c.456C>G; p.Tyr152Ter - Cited in the literature PMID 26350204 - male XY with ID.
Sources: Expert list
Autism v0.186 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Autism v0.185 Zornitza Stark HPO terms changed from to Autism, HP:0000717
List of related panels changed from to Autism; HP:0000717
Autism v0.184 GIGYF2 Chirag Patel Classified gene: GIGYF2 as Red List (low evidence)
Autism v0.184 GIGYF2 Chirag Patel Gene: gigyf2 has been classified as Red List (Low Evidence).
Autism v0.184 GIGYF2 Chirag Patel Classified gene: GIGYF2 as Red List (low evidence)
Autism v0.184 GIGYF2 Chirag Patel Gene: gigyf2 has been classified as Red List (Low Evidence).
Autism v0.183 GIGYF2 Chirag Patel reviewed gene: GIGYF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Autism v0.183 NRXN1 Zornitza Stark Marked gene: NRXN1 as ready
Autism v0.183 NRXN1 Zornitza Stark Gene: nrxn1 has been classified as Green List (High Evidence).
Autism v0.183 NRXN1 Zornitza Stark Phenotypes for gene: NRXN1 were changed from to Pitt-Hopkins-like syndrome 2 - MIM#614325
Autism v0.182 NRXN1 Zornitza Stark Publications for gene: NRXN1 were set to
Autism v0.181 NRXN1 Zornitza Stark Mode of inheritance for gene: NRXN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autism v0.180 NRXN1 Krithika Murali reviewed gene: NRXN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25486015, 19896112, 21964664, 30873608, 35101781, 22337556, 22670139; Phenotypes: Pitt-Hopkins-like syndrome 2 - MIM#614325; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autism v0.180 NLGN3 Zornitza Stark Mode of inheritance for gene: NLGN3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Autism v0.179 NLGN3 Zornitza Stark Marked gene: NLGN3 as ready
Autism v0.179 NLGN3 Zornitza Stark Gene: nlgn3 has been classified as Green List (High Evidence).
Autism v0.179 NLGN3 Zornitza Stark Phenotypes for gene: NLGN3 were changed from {Asperger syndrome susceptibility, X-linked 1} - MIM#300494; {Autism susceptibility, X-linked 1} - MIM#300425 to X-linked complex neurodevelopmental disorder MONDO:0100148; {Asperger syndrome susceptibility, X-linked 1} - MIM#300494; {Autism susceptibility, X-linked 1} - MIM#300425
Autism v0.178 NLGN3 Zornitza Stark Phenotypes for gene: NLGN3 were changed from to {Asperger syndrome susceptibility, X-linked 1} - MIM#300494; {Autism susceptibility, X-linked 1} - MIM#300425
Autism v0.177 NLGN3 Zornitza Stark Publications for gene: NLGN3 were set to
Autism v0.176 NLGN3 Zornitza Stark Mode of inheritance for gene: NLGN3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Autism v0.176 NLGN3 Zornitza Stark Mode of inheritance for gene: NLGN3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.175 NLGN3 Krithika Murali reviewed gene: NLGN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28584888, 12669065, 25167861; Phenotypes: {Asperger syndrome susceptibility, X-linked 1} - MIM#300494, {Autism susceptibility, X-linked 1} - MIM#300425; Mode of inheritance: None
Autism v0.175 SLC9A9 Zornitza Stark Classified gene: SLC9A9 as Red List (low evidence)
Autism v0.175 SLC9A9 Zornitza Stark Gene: slc9a9 has been classified as Red List (Low Evidence).
Autism v0.174 SLC9A9 Zornitza Stark changed review comment from: Several families and animal model data.
Sources: Expert list; to: DISPUTED by ClinGen:

SLC9A9 was first reported in relation to autism spectrum disorder in 2008 (Morrow et al., 2008 PMID: 18621663). A homozygous deletion upstream of SLC9A9 (also known as NHE9) as well as several heterozygous variants (one nonsense and several missense) were reported in this gene; the sequence variants were later found to have high population frequencies in gnomAD.

According to gnomAD (v.2.1.1), SLC9A9 is not constrained for loss of function variants (pLI=0) or missense variants (z-score=-0.25).

Previously, a pericentric inversion of chromosome 3 disrupting SLC9A9 was reported in an extended pedigree with intellectual disability and behavioral problems (PMID: 14569117). The other inversion breakpoint affected DOCK3, a brain-expressed gene involved in neurodevelopmental disorders, and the inversion did not always segregate with the phenotype, therefore this family was not scored. An inherited exonic deletion of SLC9A9 is reported in an individual with autism spectrum disorder and epilepsy (PMID: 27123481). Two nonsense variants in individuals with autism spectrum disorder, including one reported several times in gnomAD are reported in PMID: 26185613.

Overall, variants are inherited and/or at high pop frequency, not consistent with Mendelian disease.
Autism v0.174 SLC9A9 Zornitza Stark edited their review of gene: SLC9A9: Changed rating: RED
Autism v0.174 ILF2 Zornitza Stark Marked gene: ILF2 as ready
Autism v0.174 ILF2 Zornitza Stark Gene: ilf2 has been classified as Red List (Low Evidence).
Autism v0.174 ILF2 Zornitza Stark Phenotypes for gene: ILF2 were changed from to Autism
Autism v0.173 ILF2 Zornitza Stark Publications for gene: ILF2 were set to
Autism v0.172 ILF2 Zornitza Stark Classified gene: ILF2 as Red List (low evidence)
Autism v0.172 ILF2 Zornitza Stark Gene: ilf2 has been classified as Red List (Low Evidence).
Autism v0.171 ILF2 Zornitza Stark Classified gene: ILF2 as Red List (low evidence)
Autism v0.171 ILF2 Zornitza Stark Gene: ilf2 has been classified as Red List (Low Evidence).
Autism v0.170 ILF2 Zornitza Stark reviewed gene: ILF2: Rating: RED; Mode of pathogenicity: None; Publications: 26402605; Phenotypes: Autism; Mode of inheritance: None
Autism v0.170 KATNAL2 Zornitza Stark Classified gene: KATNAL2 as Amber List (moderate evidence)
Autism v0.170 KATNAL2 Zornitza Stark Gene: katnal2 has been classified as Amber List (Moderate Evidence).
Autism v0.169 KATNAL2 Zornitza Stark edited their review of gene: KATNAL2: Changed rating: AMBER
Autism v0.169 SHANK1 Zornitza Stark Phenotypes for gene: SHANK1 were changed from Autism to Neurodevelopmental disorder, MONDO:0700092, SHANK1-related
Autism v0.168 SHANK1 Zornitza Stark reviewed gene: SHANK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, SHANK1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.168 SPEN Zornitza Stark Marked gene: SPEN as ready
Autism v0.168 SPEN Zornitza Stark Gene: spen has been classified as Green List (High Evidence).
Autism v0.168 SPEN Zornitza Stark Classified gene: SPEN as Green List (high evidence)
Autism v0.168 SPEN Zornitza Stark Gene: spen has been classified as Green List (High Evidence).
Autism v0.167 SPEN Elena Savva gene: SPEN was added
gene: SPEN was added to Autism. Sources: Literature
Mode of inheritance for gene: SPEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPEN were set to PMID: 33596411
Phenotypes for gene: SPEN were set to Radio-Tartaglia syndrome MIM#619312
Review for gene: SPEN was set to GREEN
gene: SPEN was marked as current diagnostic
Added comment: PMID: 33596411
- 34 individuals with truncating variants in SPEN reported, most are de novo variants.
- Clinical profile includes developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI, especially in females.
- Authors showed haploinsufficiency of SPEN is associated with a distinctive DNA methylation episignature of the X chromosome in affected females.
Sources: Literature
Autism v0.167 MAGEL2 Anna Le Fevre reviewed gene: MAGEL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24076603, 31397880, 29599419, 30302899; Phenotypes: Schaaf-Yang syndrome, Chitayat-Hall Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Autism v0.167 USP7 Zornitza Stark Phenotypes for gene: USP7 were changed from Hao-Fountain syndrome, MIM# 616863; Intellectual disability; Autism to Hao-Fountain syndrome, MIM# 616863; MONDO:0014805; Intellectual disability; Autism
Autism v0.166 USP7 Zornitza Stark edited their review of gene: USP7: Changed phenotypes: Hao-Fountain syndrome, MIM# 616863, MONDO:0014805, Intellectual disability, Autism
Autism v0.166 ANK2 Zornitza Stark Marked gene: ANK2 as ready
Autism v0.166 ANK2 Zornitza Stark Gene: ank2 has been classified as Green List (High Evidence).
Autism v0.166 ANK2 Zornitza Stark Phenotypes for gene: ANK2 were changed from to Complex neurodevelopmental disorder, MONDO:0100038
Autism v0.165 ANK2 Zornitza Stark Publications for gene: ANK2 were set to
Autism v0.164 ANK2 Zornitza Stark Mode of inheritance for gene: ANK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.163 ANK2 Zornitza Stark reviewed gene: ANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22542183, 25363768, 27479843, 28554332, 30564305, 30755392, 31981491, 33004838, 33057194; Phenotypes: Complex neurodevelopmental disorder, MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.163 FOXP1 Zornitza Stark Publications for gene: FOXP1 were set to 26633542; 28741757
Autism v0.162 FOXP1 Zornitza Stark commented on gene: FOXP1: At least 30 unrelated individuals reported.
Autism v0.162 FOXP1 Zornitza Stark edited their review of gene: FOXP1: Changed publications: 26633542, 28741757, 34109629
Autism v0.162 RELN Zornitza Stark Marked gene: RELN as ready
Autism v0.162 RELN Zornitza Stark Gene: reln has been classified as Red List (Low Evidence).
Autism v0.162 RELN Zornitza Stark Phenotypes for gene: RELN were changed from to Lissencephaly 2 (Norman-Roberts type), MIM# 257320; ASD
Autism v0.161 RELN Zornitza Stark Publications for gene: RELN were set to
Autism v0.160 RELN Zornitza Stark Mode of inheritance for gene: RELN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autism v0.159 RELN Zornitza Stark Classified gene: RELN as Red List (low evidence)
Autism v0.159 RELN Zornitza Stark Gene: reln has been classified as Red List (Low Evidence).
Autism v0.158 RELN Zornitza Stark reviewed gene: RELN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly 2 (Norman-Roberts type), MIM# 257320; Mode of inheritance: None
Autism v0.158 RELN Ee Ming Wong reviewed gene: RELN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28419454, 29969175; Phenotypes: ASD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Autism v0.158 SHANK3 Zornitza Stark Tag SV/CNV tag was added to gene: SHANK3.
Autism v0.158 SHANK3 Zornitza Stark Marked gene: SHANK3 as ready
Autism v0.158 SHANK3 Zornitza Stark Gene: shank3 has been classified as Green List (High Evidence).
Autism v0.158 SHANK3 Zornitza Stark Phenotypes for gene: SHANK3 were changed from to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652
Autism v0.157 SHANK3 Zornitza Stark Publications for gene: SHANK3 were set to
Autism v0.156 SHANK3 Zornitza Stark Mode of inheritance for gene: SHANK3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.155 SHANK3 Zornitza Stark reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30842224, 16284256, 17173049, 20186804, 22892527; Phenotypes: Phelan-McDermid syndrome, MIM# 606232, MONDO:0011652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.155 MBD5 Zornitza Stark Marked gene: MBD5 as ready
Autism v0.155 MBD5 Zornitza Stark Gene: mbd5 has been classified as Green List (High Evidence).
Autism v0.155 MBD5 Zornitza Stark Tag SV/CNV tag was added to gene: MBD5.
Autism v0.155 MBD5 Zornitza Stark Phenotypes for gene: MBD5 were changed from to Mental retardation, autosomal dominant 1, MIM# 156200; MONDO:0007974
Autism v0.154 MBD5 Zornitza Stark Publications for gene: MBD5 were set to
Autism v0.153 MBD5 Zornitza Stark Mode of inheritance for gene: MBD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.152 MBD5 Zornitza Stark reviewed gene: MBD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 18812405, 21981781, 23708187, 22726846, 33912662; Phenotypes: Mental retardation, autosomal dominant 1, MIM# 156200, MONDO:0007974; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.152 IQSEC2 Zornitza Stark Marked gene: IQSEC2 as ready
Autism v0.152 IQSEC2 Zornitza Stark Gene: iqsec2 has been classified as Green List (High Evidence).
Autism v0.152 IQSEC2 Zornitza Stark Phenotypes for gene: IQSEC2 were changed from to Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347
Autism v0.151 IQSEC2 Zornitza Stark Publications for gene: IQSEC2 were set to
Autism v0.150 IQSEC2 Zornitza Stark Mode of inheritance for gene: IQSEC2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Autism v0.149 IQSEC2 Zornitza Stark reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31415821, 20473311, 30842726, 33368194, 23674175; Phenotypes: Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656, Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Autism v0.149 CACNA1H Zornitza Stark Marked gene: CACNA1H as ready
Autism v0.149 CACNA1H Zornitza Stark Gene: cacna1h has been classified as Red List (Low Evidence).
Autism v0.149 CACNA1H Zornitza Stark Phenotypes for gene: CACNA1H were changed from to Autism spectrum disorder
Autism v0.148 CACNA1H Zornitza Stark Publications for gene: CACNA1H were set to
Autism v0.147 CACNA1H Zornitza Stark Mode of inheritance for gene: CACNA1H was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.146 CACNA1H Zornitza Stark Classified gene: CACNA1H as Red List (low evidence)
Autism v0.146 CACNA1H Zornitza Stark Gene: cacna1h has been classified as Red List (Low Evidence).
Autism v0.145 ADNP Zornitza Stark Marked gene: ADNP as ready
Autism v0.145 ADNP Zornitza Stark Gene: adnp has been classified as Green List (High Evidence).
Autism v0.145 ADNP Zornitza Stark Phenotypes for gene: ADNP were changed from to Helsmoortel-van der Aa syndrome MIM#615873; MONDO:0014379
Autism v0.144 ADNP Zornitza Stark Publications for gene: ADNP were set to
Autism v0.143 ADNP Zornitza Stark Mode of inheritance for gene: ADNP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.142 ADNP Zornitza Stark reviewed gene: ADNP: Rating: GREEN; Mode of pathogenicity: None; Publications: 24531329, 25057125, 25533962, 29724491, 29911927; Phenotypes: Helsmoortel-van der Aa syndrome MIM#615873, MONDO:0014379; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.142 BICRA Zornitza Stark Phenotypes for gene: BICRA were changed from Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features to Coffin-Siris syndrome-12, MIM#619325; Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features
Autism v0.141 BICRA Zornitza Stark reviewed gene: BICRA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Siris syndrome-12, MIM#619325; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.141 CACNA1H Paul De Fazio reviewed gene: CACNA1H: Rating: RED; Mode of pathogenicity: None; Publications: 16754686, 32571372; Phenotypes: Autism spectrum disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Autism v0.141 TNRC6B Zornitza Stark Phenotypes for gene: TNRC6B were changed from Global developmental delay; Intellectual disability; Autistic behavior to Global developmental delay with speech and behavioural abnormalities, MIM# 619243
Autism v0.140 TNRC6B Zornitza Stark edited their review of gene: TNRC6B: Changed phenotypes: Global developmental delay with speech and behavioural abnormalities, MIM# 619243
Autism v0.140 CUL3 Zornitza Stark Phenotypes for gene: CUL3 were changed from Autism; Intellectual disability; Epilepsy to Neurodevelopmental disorder with or without autism or seizures 619239
Autism v0.139 CUL3 Zornitza Stark edited their review of gene: CUL3: Changed phenotypes: Neurodevelopmental disorder with or without autism or seizures MIM#619239
Autism v0.139 TAOK2 Bryony Thompson Marked gene: TAOK2 as ready
Autism v0.139 TAOK2 Bryony Thompson Gene: taok2 has been classified as Amber List (Moderate Evidence).
Autism v0.139 TAOK2 Bryony Thompson Classified gene: TAOK2 as Amber List (moderate evidence)
Autism v0.139 TAOK2 Bryony Thompson Added comment: Comment on list classification: Good mouse model, but some uncertainty in the human data
Autism v0.139 TAOK2 Bryony Thompson Gene: taok2 has been classified as Amber List (Moderate Evidence).
Autism v0.138 TAOK2 Bryony Thompson gene: TAOK2 was added
gene: TAOK2 was added to Autism. Sources: Literature
Mode of inheritance for gene: TAOK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TAOK2 were set to 29467497
Phenotypes for gene: TAOK2 were set to Autism
Review for gene: TAOK2 was set to AMBER
Added comment: One of the several genes in the 16p11.2 microdeletion region associated with autism. Taok2 heterozygous and knockout mice had gene dosage-dependent impairments in cognition, anxiety, social interaction, brain size, and neural connectivity. 3 de novo variants and 3 predicted loss of function variants identified in 6 unrelated autism cases. 2 of the de novo variants have supporting functional assays, but 1 of them co-occurs in an individual with a CHD8 frameshift. 1 of the predicted loss of function variants was also identified in the unaffected father and sibling.
Sources: Literature
Autism v0.137 KDM5B Zornitza Stark Marked gene: KDM5B as ready
Autism v0.137 KDM5B Zornitza Stark Gene: kdm5b has been classified as Green List (High Evidence).
Autism v0.137 KDM5B Zornitza Stark Phenotypes for gene: KDM5B were changed from to Intellectual disability and/or autism, autosomal dominant
Autism v0.136 KDM5B Zornitza Stark Publications for gene: KDM5B were set to
Autism v0.135 KDM5B Zornitza Stark Mode of inheritance for gene: KDM5B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.134 KDM5B Zornitza Stark reviewed gene: KDM5B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29276005, 30217758, 30409806; Phenotypes: Intellectual disability and/or autism, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.134 DYRK1A Zornitza Stark Marked gene: DYRK1A as ready
Autism v0.134 DYRK1A Zornitza Stark Gene: dyrk1a has been classified as Green List (High Evidence).
Autism v0.134 DYRK1A Zornitza Stark Tag SV/CNV tag was added to gene: DYRK1A.
Autism v0.134 DYRK1A Zornitza Stark Phenotypes for gene: DYRK1A were changed from to Mental retardation, autosomal dominant 7, MIM# 614104; MONDO:0013578
Autism v0.133 DYRK1A Zornitza Stark Publications for gene: DYRK1A were set to
Autism v0.132 DYRK1A Zornitza Stark Mode of inheritance for gene: DYRK1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.131 DYRK1A Zornitza Stark reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25707398, 21294719, 23160955, 23099646, 33159716; Phenotypes: Mental retardation, autosomal dominant 7, MIM# 614104, MONDO:0013578; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.131 CLCN4 Zornitza Stark Marked gene: CLCN4 as ready
Autism v0.131 CLCN4 Zornitza Stark Gene: clcn4 has been classified as Green List (High Evidence).
Autism v0.131 CLCN4 Zornitza Stark Phenotypes for gene: CLCN4 were changed from autism; intellectual disability; hypoplasia or agenesis of the corpus callosum; bipolar to Raynaud-Claes syndrome, MIM# 300114; autism; intellectual disability; hypoplasia or agenesis of the corpus callosum; bipolar
Autism v0.130 CLCN4 Zornitza Stark Classified gene: CLCN4 as Green List (high evidence)
Autism v0.130 CLCN4 Zornitza Stark Gene: clcn4 has been classified as Green List (High Evidence).
Autism v0.129 CLCN4 Elizabeth Palmer gene: CLCN4 was added
gene: CLCN4 was added to Autism. Sources: Literature
Mode of inheritance for gene: CLCN4 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: CLCN4 were set to PMID: 27550844
Phenotypes for gene: CLCN4 were set to autism; intellectual disability; hypoplasia or agenesis of the corpus callosum; bipolar
Penetrance for gene: CLCN4 were set to Complete
Review for gene: CLCN4 was set to GREEN
gene: CLCN4 was marked as current diagnostic
Added comment: In PMID: 27550844 significant behavioral or mental health issues were noted in 19 (66%) males: hetero-aggressive behavior was reported in 8 males, auto-aggressive behavior in 3 males, repetitive autistic or obsessive–compulsive like behaviors in 7 males and hyperactivity in 3 males.
Sources: Literature
Autism v0.129 INTS6 Zornitza Stark Marked gene: INTS6 as ready
Autism v0.129 INTS6 Zornitza Stark Gene: ints6 has been classified as Red List (Low Evidence).
Autism v0.129 INTS6 Zornitza Stark Classified gene: INTS6 as Red List (low evidence)
Autism v0.129 INTS6 Zornitza Stark Gene: ints6 has been classified as Red List (Low Evidence).
Autism v0.128 INTS6 Elena Savva reviewed gene: INTS6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Autism v0.128 RALGAPB Seb Lunke Marked gene: RALGAPB as ready
Autism v0.128 RALGAPB Seb Lunke Gene: ralgapb has been classified as Green List (High Evidence).
Autism v0.128 RALGAPB Seb Lunke Classified gene: RALGAPB as Green List (high evidence)
Autism v0.128 RALGAPB Seb Lunke Gene: ralgapb has been classified as Green List (High Evidence).
Autism v0.127 RALGAPB Elena Savva gene: RALGAPB was added
gene: RALGAPB was added to Autism. Sources: Literature
Mode of inheritance for gene: RALGAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RALGAPB were set to PMID: 32853829
Phenotypes for gene: RALGAPB were set to Neurodevelopmental disorders, autism
Review for gene: RALGAPB was set to GREEN
Added comment: PMID: 32853829 - 2 patients with de novo missense variants, 1 patient with a de novo PTC with autism spectrum disorder from a large cohort.
Reviews previous publications and identifies 10 de novo variants (5 PTCs, 5 missense) in patients with ASD (7/10), epilepsy (2/10) and developmental delay (1/10).
Functional studies of patient cells show reduced mRNA expression (PTC).
Sources: Literature
Autism v0.127 RERE Zornitza Stark Marked gene: RERE as ready
Autism v0.127 RERE Zornitza Stark Gene: rere has been classified as Green List (High Evidence).
Autism v0.127 RERE Zornitza Stark Phenotypes for gene: RERE were changed from to Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975
Autism v0.126 RERE Zornitza Stark Publications for gene: RERE were set to
Autism v0.125 RERE Zornitza Stark Mode of inheritance for gene: RERE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.124 RERE Zornitza Stark reviewed gene: RERE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27087320, 23451234, 30896913, 30061196; Phenotypes: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.124 BICRA Zornitza Stark Marked gene: BICRA as ready
Autism v0.124 BICRA Zornitza Stark Gene: bicra has been classified as Green List (High Evidence).
Autism v0.124 BICRA Zornitza Stark Classified gene: BICRA as Green List (high evidence)
Autism v0.124 BICRA Zornitza Stark Gene: bicra has been classified as Green List (High Evidence).
Autism v0.123 BICRA Paul De Fazio gene: BICRA was added
gene: BICRA was added to Autism. Sources: Literature
Mode of inheritance for gene: BICRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BICRA were set to 33232675
Phenotypes for gene: BICRA were set to Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features
Review for gene: BICRA was set to GREEN
gene: BICRA was marked as current diagnostic
Added comment: 12 individuals reported, 11 de novo (1 not resolved), "with neurodevelopmental phenotypes—developmental delay (HP:0001263), intellectual disability (HP:0001249), autism spectrum disorder (HP:0000729), and/or behavioral phenotypes (HP:0000708)—and variable structural birth defects and dysmorphic features". Mostly LoF or gene deletions, but 2 missense reported. Zebrafish model supports the gene-disease association.
Sources: Literature
Autism v0.123 USP7 Zornitza Stark changed review comment from: Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging.; to: Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging.
Autism v0.123 USP7 Zornitza Stark Marked gene: USP7 as ready
Autism v0.123 USP7 Zornitza Stark Gene: usp7 has been classified as Green List (High Evidence).
Autism v0.123 USP7 Zornitza Stark Phenotypes for gene: USP7 were changed from to Hao-Fountain syndrome, MIM# 616863; Intellectual disability; Autism
Autism v0.122 USP7 Zornitza Stark Publications for gene: USP7 were set to
Autism v0.121 USP7 Zornitza Stark Mode of inheritance for gene: USP7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.120 USP7 Zornitza Stark reviewed gene: USP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 26365382, 30679821; Phenotypes: Hao-Fountain syndrome, MIM# 616863, Intellectual disability, Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.120 ALG6 Zornitza Stark Marked gene: ALG6 as ready
Autism v0.120 ALG6 Zornitza Stark Gene: alg6 has been classified as Green List (High Evidence).
Autism v0.120 ALG6 Zornitza Stark Phenotypes for gene: ALG6 were changed from to Congenital disorder of glycosylation, type Ic (MIM#603147)
Autism v0.119 ALG6 Zornitza Stark Publications for gene: ALG6 were set to
Autism v0.118 ALG6 Zornitza Stark Mode of inheritance for gene: ALG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autism v0.117 ALG6 Zornitza Stark reviewed gene: ALG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 10914684, 27498540; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autism v0.117 NCKAP1 Zornitza Stark Marked gene: NCKAP1 as ready
Autism v0.117 NCKAP1 Zornitza Stark Gene: nckap1 has been classified as Green List (High Evidence).
Autism v0.117 NCKAP1 Zornitza Stark Phenotypes for gene: NCKAP1 were changed from to Intellectual disability; autism
Autism v0.116 NCKAP1 Zornitza Stark Publications for gene: NCKAP1 were set to
Autism v0.115 NCKAP1 Zornitza Stark Mode of inheritance for gene: NCKAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.114 NCKAP1 Zornitza Stark reviewed gene: NCKAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33157009; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.114 NR2F1 Zornitza Stark Marked gene: NR2F1 as ready
Autism v0.114 NR2F1 Zornitza Stark Gene: nr2f1 has been classified as Green List (High Evidence).
Autism v0.114 NR2F1 Zornitza Stark Phenotypes for gene: NR2F1 were changed from to Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722
Autism v0.113 NR2F1 Zornitza Stark Publications for gene: NR2F1 were set to
Autism v0.112 NR2F1 Zornitza Stark Mode of inheritance for gene: NR2F1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.111 NR2F1 Zornitza Stark reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32275123; Phenotypes: Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.111 MYT1L Zornitza Stark Marked gene: MYT1L as ready
Autism v0.111 MYT1L Zornitza Stark Gene: myt1l has been classified as Green List (High Evidence).
Autism v0.111 MYT1L Zornitza Stark Phenotypes for gene: MYT1L were changed from to Mental retardation, autosomal dominant 39, MIM# 616521
Autism v0.110 MYT1L Zornitza Stark Tag SV/CNV tag was added to gene: MYT1L.
Autism v0.110 MYT1L Natasha Brown Classified gene: MYT1L as Green List (high evidence)
Autism v0.110 MYT1L Natasha Brown Gene: myt1l has been classified as Green List (High Evidence).
Autism v0.109 MYT1L Natasha Brown Classified gene: MYT1L as Green List (high evidence)
Autism v0.109 MYT1L Natasha Brown Gene: myt1l has been classified as Green List (High Evidence).
Autism v0.109 MYT1L Natasha Brown Classified gene: MYT1L as Green List (high evidence)
Autism v0.109 MYT1L Natasha Brown Gene: myt1l has been classified as Green List (High Evidence).
Autism v0.108 MYT1L Natasha Brown gene: MYT1L was added
gene: MYT1L was added to Autism. Sources: Literature
Mode of inheritance for gene: MYT1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYT1L were set to PMID: 32065501
Review for gene: MYT1L was set to GREEN
Added comment: 9 new cases reported bringing total to 51, some of which are larger CNVs including additional genes (2p25.3 deletion syndrome). Of those with microdeletion or SNV of MYT1L only, 66.7% (12/18) had autism.
Sources: Literature
Autism v0.107 GRIN2B Zornitza Stark Marked gene: GRIN2B as ready
Autism v0.107 GRIN2B Zornitza Stark Gene: grin2b has been classified as Green List (High Evidence).
Autism v0.107 GRIN2B Zornitza Stark Phenotypes for gene: GRIN2B were changed from to Mental retardation, autosomal dominant 6, MIM# 613970; Epileptic encephalopathy, early infantile, 27, MIM# 616139
Autism v0.106 GRIN2B Zornitza Stark Publications for gene: GRIN2B were set to
Autism v0.105 GRIN2B Zornitza Stark Mode of inheritance for gene: GRIN2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.104 GRIN2B Zornitza Stark reviewed gene: GRIN2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28377535; Phenotypes: Mental retardation, autosomal dominant 6, MIM# 613970, Epileptic encephalopathy, early infantile, 27, MIM# 616139; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.104 RIMS2 Zornitza Stark Phenotypes for gene: RIMS2 were changed from nystagmus; retinal dysfunction; autism; night blindness to nystagmus; retinal dysfunction; autism; night blindness; Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970
Autism v0.103 HERC2 Zornitza Stark Marked gene: HERC2 as ready
Autism v0.103 HERC2 Zornitza Stark Gene: herc2 has been classified as Green List (High Evidence).
Autism v0.103 HERC2 Zornitza Stark Phenotypes for gene: HERC2 were changed from to Mental retardation, autosomal recessive 38 (MIM 615516)
Autism v0.102 HERC2 Zornitza Stark Publications for gene: HERC2 were set to
Autism v0.101 HERC2 Zornitza Stark Mode of inheritance for gene: HERC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autism v0.100 HERC2 Zornitza Stark reviewed gene: HERC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23065719, 23243086, 30902390, 32571899, 27848944, 26077850, 27759030; Phenotypes: Mental retardation, autosomal recessive 38 (MIM 615516); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autism v0.100 SLC6A1 Zornitza Stark Marked gene: SLC6A1 as ready
Autism v0.100 SLC6A1 Zornitza Stark Gene: slc6a1 has been classified as Green List (High Evidence).
Autism v0.100 SLC6A1 Zornitza Stark Phenotypes for gene: SLC6A1 were changed from to Myoclonic-atonic epilepsy, MIM#616421
Autism v0.99 SLC6A1 Zornitza Stark Publications for gene: SLC6A1 were set to
Autism v0.98 SLC6A1 Zornitza Stark Mode of inheritance for gene: SLC6A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.97 SLC6A1 Zornitza Stark reviewed gene: SLC6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29315614; Phenotypes: Myoclonic-atonic epilepsy, MIM#616421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.97 RIMS2 Zornitza Stark Marked gene: RIMS2 as ready
Autism v0.97 RIMS2 Zornitza Stark Added comment: Comment when marking as ready: Most affected individuals reported as having autism.
Autism v0.97 RIMS2 Zornitza Stark Gene: rims2 has been classified as Green List (High Evidence).
Autism v0.97 RIMS2 Zornitza Stark Classified gene: RIMS2 as Green List (high evidence)
Autism v0.97 RIMS2 Zornitza Stark Gene: rims2 has been classified as Green List (High Evidence).
Autism v0.96 RIMS2 Paul De Fazio changed review comment from: Biallelic LoF variants segregate with Syndromic Congenital Cone-Rod Synaptic Disease in 7 individuals across 4 families. Some functional studies related to insulin secretion but they are non-significant. Several individuals had autism.
Sources: Literature; to: Biallelic LoF variants segregate with Syndromic Congenital Cone-Rod Synaptic Disease in 7 individuals across 4 families. Some functional studies related to insulin secretion but they are non-significant. Several individuals had autism. One had night blindness.
Sources: Literature
Autism v0.96 RIMS2 Paul De Fazio changed review comment from: Biallelic LoF variants segregate with Syndromic Congenital Cone-Rod Synaptic Disease in 7 individuals across 4 families. Some functional studies related to insulin secretion but they are non-significant.
Sources: Literature; to: Biallelic LoF variants segregate with Syndromic Congenital Cone-Rod Synaptic Disease in 7 individuals across 4 families. Some functional studies related to insulin secretion but they are non-significant. Several individuals had autism.
Sources: Literature
Autism v0.96 RIMS2 Paul De Fazio gene: RIMS2 was added
gene: RIMS2 was added to Autism. Sources: Literature
Mode of inheritance for gene: RIMS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIMS2 were set to 32470375
Phenotypes for gene: RIMS2 were set to nystagmus; retinal dysfunction; autism; night blindness
Review for gene: RIMS2 was set to GREEN
Added comment: Biallelic LoF variants segregate with Syndromic Congenital Cone-Rod Synaptic Disease in 7 individuals across 4 families. Some functional studies related to insulin secretion but they are non-significant.
Sources: Literature
Autism v0.96 TRIP12 Zornitza Stark Marked gene: TRIP12 as ready
Autism v0.96 TRIP12 Zornitza Stark Gene: trip12 has been classified as Green List (High Evidence).
Autism v0.96 TRIP12 Zornitza Stark Phenotypes for gene: TRIP12 were changed from to Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752
Autism v0.95 TRIP12 Zornitza Stark Mode of inheritance for gene: TRIP12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.94 TRIP12 Zornitza Stark reviewed gene: TRIP12: Rating: GREEN; Mode of pathogenicity: None; Publications: 27848077, 28251352; Phenotypes: Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.94 PACS1 Zornitza Stark Marked gene: PACS1 as ready
Autism v0.94 PACS1 Zornitza Stark Gene: pacs1 has been classified as Green List (High Evidence).
Autism v0.94 PACS1 Zornitza Stark Phenotypes for gene: PACS1 were changed from to Schuurs-Hoeijmakers syndrome (MIM# 615009)
Autism v0.93 PACS1 Zornitza Stark Publications for gene: PACS1 were set to
Autism v0.92 PACS1 Zornitza Stark Mode of inheritance for gene: PACS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.91 PACS1 Zornitza Stark reviewed gene: PACS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26842493, 23159249; Phenotypes: Schuurs-Hoeijmakers syndrome (MIM# 615009); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.91 CUL3 Zornitza Stark Phenotypes for gene: CUL3 were changed from Autism to Autism; Intellectual disability; Epilepsy
Autism v0.90 CUL3 Zornitza Stark edited their review of gene: CUL3: Added comment: Further publication (PMID 32341456) reporting three unrelated individuals with neurodevelopmental phenotype.; Changed publications: 22495309, 22914163, 25363760, 27824329, 32341456; Changed phenotypes: Autism, Intellectual disability, Epilepsy
Autism v0.90 TNRC6B Zornitza Stark Phenotypes for gene: TNRC6B were changed from to Global developmental delay; Intellectual disability; Autistic behavior
Autism v0.89 TNRC6B Zornitza Stark Publications for gene: TNRC6B were set to
Autism v0.88 TNRC6B Zornitza Stark Mode of inheritance for gene: TNRC6B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.87 TNRC6B Zornitza Stark Classified gene: TNRC6B as Green List (high evidence)
Autism v0.87 TNRC6B Zornitza Stark Gene: tnrc6b has been classified as Green List (High Evidence).
Autism v0.86 TNRC6B Zornitza Stark edited their review of gene: TNRC6B: Added comment: 17 unrelated individuals with heterozygous TNRC6B variants reported. Features included hypotonia (10/17), DD/ID (17/17 - ID was not universal: average IQ of 12 individuals was 73 (range : 50-113) with 4 having below 70), ADHD (11/17), ASD or autistic traits (8/17 and 5/17). Some/few presented with abnormal OFC (micro- / macrocephaly in 3/17 and 2/17), abnormal vision or hearing, variable other congenital anomalies, echocardiographic, GI or renal abnormalities, etc. Epilepsy was reported in 1/17. There was no recognisable gestalt.Detected variants included 14 pLoF, 1 missense SNV and 2 intragenic deletions. Variants had occurred as de novo events in 10/13 subjects for whom testing of both parents was possible. 3/13 subjects had inherited the variant from a parent with milder phenotype. Based on the type of variants identified, the pLI score of 1 in gnomAD and the HI index of 5.61%, the authors suggest haploinsufficiency as the most likely mechanism. Individuals with de novo TNRC6B variants have also been reported in larger cohorts (e.g. DDD study - PMID: 28135719, Iossifov et al - PMID: 25363768, Lelieveld et al - PMID: 27479843, Jónsson et al - PMID: 28959963). A previous study provided details on 2 sibs harboring a translocation which disrupted both TNRC6B and TCF20 (also associated with ID)(Babbs et al - PMID: 25228304).; Changed rating: GREEN; Changed publications: 32152250, 28135719, 25363768, 27479843, 28959963, 25228304; Changed phenotypes: Global developmental delay, Intellectual disability, Autistic behavior; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.86 TMPRSS9 Zornitza Stark Marked gene: TMPRSS9 as ready
Autism v0.86 TMPRSS9 Zornitza Stark Gene: tmprss9 has been classified as Red List (Low Evidence).
Autism v0.86 TMPRSS9 Zornitza Stark gene: TMPRSS9 was added
gene: TMPRSS9 was added to Autism. Sources: Literature
Mode of inheritance for gene: TMPRSS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMPRSS9 were set to 31943016
Phenotypes for gene: TMPRSS9 were set to autism spectrum disorder
Review for gene: TMPRSS9 was set to RED
Added comment: Single individual reported.
Sources: Literature
Autism v0.85 BAZ2B Zornitza Stark Marked gene: BAZ2B as ready
Autism v0.85 BAZ2B Zornitza Stark Gene: baz2b has been classified as Green List (High Evidence).
Autism v0.85 BAZ2B Zornitza Stark Classified gene: BAZ2B as Green List (high evidence)
Autism v0.85 BAZ2B Zornitza Stark Gene: baz2b has been classified as Green List (High Evidence).
Autism v0.84 BAZ2B Zornitza Stark gene: BAZ2B was added
gene: BAZ2B was added to Autism. Sources: Literature
Mode of inheritance for gene: BAZ2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BAZ2B were set to 31999386; 28135719; 25363768
Phenotypes for gene: BAZ2B were set to Intellectual disability; autism
Review for gene: BAZ2B was set to GREEN
Added comment: Postulated as a candidate gene for ID/ASD by large-scale studies. Case series reports two individuals with small CNVs and and six with SNVs, mostly LoF type variants. Although the gene is generally intolerant of LoF, some LoF variants present in gnomad ?incomplete penetrance. Additional reported features were inconsistent
Sources: Literature
Autism v0.83 FMR1 Bryony Thompson Tag STR tag was added to gene: FMR1.
Autism v0.83 SHANK2 Zornitza Stark Marked gene: SHANK2 as ready
Autism v0.83 SHANK2 Zornitza Stark Gene: shank2 has been classified as Green List (High Evidence).
Autism v0.83 SHANK2 Zornitza Stark Phenotypes for gene: SHANK2 were changed from to {Autism susceptibility 17}, MIM#613436; Autism spectrum disorder with or without intellectual disability
Autism v0.82 SHANK2 Zornitza Stark Publications for gene: SHANK2 were set to
Autism v0.81 SHANK2 Zornitza Stark Mode of inheritance for gene: SHANK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.80 SHANK2 Zornitza Stark reviewed gene: SHANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30072871, 30911184, 20473310; Phenotypes: {Autism susceptibility 17}, Autism spectrum disorder with or without intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.80 CNOT3 Zornitza Stark Marked gene: CNOT3 as ready
Autism v0.80 CNOT3 Zornitza Stark Gene: cnot3 has been classified as Green List (High Evidence).
Autism v0.80 CNOT3 Zornitza Stark Phenotypes for gene: CNOT3 were changed from to Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672
Autism v0.79 CNOT3 Zornitza Stark Publications for gene: CNOT3 were set to
Autism v0.78 CNOT3 Zornitza Stark Mode of inheritance for gene: CNOT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.77 CNOT3 Zornitza Stark reviewed gene: CNOT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31201375; Phenotypes: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.77 RIMS1 Zornitza Stark Phenotypes for gene: RIMS1 were changed from to Autism
Autism v0.76 RIMS1 Zornitza Stark Publications for gene: RIMS1 were set to
Autism v0.75 RIMS1 Zornitza Stark Mode of inheritance for gene: RIMS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.74 RIMS1 Zornitza Stark reviewed gene: RIMS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25284784, 25961944; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.74 TBR1 Zornitza Stark Marked gene: TBR1 as ready
Autism v0.74 TBR1 Zornitza Stark Gene: tbr1 has been classified as Green List (High Evidence).
Autism v0.74 TBR1 Zornitza Stark Phenotypes for gene: TBR1 were changed from to Intellectual developmental disorder with autism and speech delay, MIM# 606053
Autism v0.73 TBR1 Zornitza Stark Publications for gene: TBR1 were set to
Autism v0.72 TBR1 Zornitza Stark Mode of inheritance for gene: TBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.71 TBR1 Zornitza Stark reviewed gene: TBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25232744, 30250039; Phenotypes: Intellectual developmental disorder with autism and speech delay, MIM# 606053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.71 TMLHE Zornitza Stark Classified gene: TMLHE as Green List (high evidence)
Autism v0.71 TMLHE Zornitza Stark Gene: tmlhe has been classified as Green List (High Evidence).
Autism v0.70 TMLHE Zornitza Stark gene: TMLHE was added
gene: TMLHE was added to Autism. Sources: Expert list
Mode of inheritance for gene: TMLHE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TMLHE were set to 21865298
Phenotypes for gene: TMLHE were set to {Autism, susceptibility to, X-linked 6}, MIM#300872
Review for gene: TMLHE was set to GREEN
Added comment: Sources: Expert list
Autism v0.69 SLC9A9 Zornitza Stark Marked gene: SLC9A9 as ready
Autism v0.69 SLC9A9 Zornitza Stark Gene: slc9a9 has been classified as Green List (High Evidence).
Autism v0.69 SLC9A9 Zornitza Stark Classified gene: SLC9A9 as Green List (high evidence)
Autism v0.69 SLC9A9 Zornitza Stark Gene: slc9a9 has been classified as Green List (High Evidence).
Autism v0.68 SLC9A9 Zornitza Stark gene: SLC9A9 was added
gene: SLC9A9 was added to Autism. Sources: Expert list
Mode of inheritance for gene: SLC9A9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC9A9 were set to 18621663; 31134136; 27123481; 26755066
Phenotypes for gene: SLC9A9 were set to {?Autism susceptibility 16}, MIM# 613410
Review for gene: SLC9A9 was set to GREEN
Added comment: Several families and animal model data.
Sources: Expert list
Autism v0.67 UNC13A Zornitza Stark Marked gene: UNC13A as ready
Autism v0.67 UNC13A Zornitza Stark Gene: unc13a has been classified as Red List (Low Evidence).
Autism v0.67 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from to Congenital myasthenia; dyskinesia; autism; developmental delay
Autism v0.66 UNC13A Zornitza Stark Publications for gene: UNC13A were set to
Autism v0.65 UNC13A Zornitza Stark Mode of inheritance for gene: UNC13A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autism v0.64 UNC13A Zornitza Stark Classified gene: UNC13A as Red List (low evidence)
Autism v0.64 UNC13A Zornitza Stark Gene: unc13a has been classified as Red List (Low Evidence).
Autism v0.63 UNC13A Zornitza Stark reviewed gene: UNC13A: Rating: RED; Mode of pathogenicity: None; Publications: 27648472, 28192369; Phenotypes: Congenital myasthenia, dyskinesia, autism, developmental delay; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autism v0.63 KATNAL2 Zornitza Stark Marked gene: KATNAL2 as ready
Autism v0.63 KATNAL2 Zornitza Stark Gene: katnal2 has been classified as Green List (High Evidence).
Autism v0.63 KATNAL2 Zornitza Stark Phenotypes for gene: KATNAL2 were changed from Autism to Autism
Autism v0.63 KATNAL2 Zornitza Stark Phenotypes for gene: KATNAL2 were changed from to Autism
Autism v0.62 KATNAL2 Zornitza Stark Publications for gene: KATNAL2 were set to
Autism v0.61 KATNAL2 Zornitza Stark Mode of inheritance for gene: KATNAL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.60 KATNAL2 Zornitza Stark reviewed gene: KATNAL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22495311, 21572417, 22495309, 22495306; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.60 CUL3 Zornitza Stark Marked gene: CUL3 as ready
Autism v0.60 CUL3 Zornitza Stark Gene: cul3 has been classified as Green List (High Evidence).
Autism v0.60 CUL3 Zornitza Stark Phenotypes for gene: CUL3 were changed from to Autism
Autism v0.59 CUL3 Zornitza Stark Publications for gene: CUL3 were set to
Autism v0.58 CUL3 Zornitza Stark Mode of inheritance for gene: CUL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.57 CUL3 Zornitza Stark reviewed gene: CUL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22495309, 22914163, 25363760, 27824329; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.57 HDAC4 Zornitza Stark Marked gene: HDAC4 as ready
Autism v0.57 HDAC4 Zornitza Stark Gene: hdac4 has been classified as Red List (Low Evidence).
Autism v0.57 HDAC4 Zornitza Stark Phenotypes for gene: HDAC4 were changed from to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability
Autism v0.56 HDAC4 Zornitza Stark Publications for gene: HDAC4 were set to
Autism v0.55 HDAC4 Zornitza Stark Mode of inheritance for gene: HDAC4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.54 HDAC4 Zornitza Stark Classified gene: HDAC4 as Red List (low evidence)
Autism v0.54 HDAC4 Zornitza Stark Gene: hdac4 has been classified as Red List (Low Evidence).
Autism v0.53 HDAC4 Zornitza Stark reviewed gene: HDAC4: Rating: RED; Mode of pathogenicity: None; Publications: 24715439, 20691407, 31209962; Phenotypes: Brachydactyly mental retardation syndrome, Brachydactyly without intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.53 CACNA2D3 Zornitza Stark Marked gene: CACNA2D3 as ready
Autism v0.53 CACNA2D3 Zornitza Stark Gene: cacna2d3 has been classified as Red List (Low Evidence).
Autism v0.53 CACNA2D3 Zornitza Stark Publications for gene: CACNA2D3 were set to
Autism v0.52 CACNA2D3 Zornitza Stark Classified gene: CACNA2D3 as Red List (low evidence)
Autism v0.52 CACNA2D3 Zornitza Stark Gene: cacna2d3 has been classified as Red List (Low Evidence).
Autism v0.51 CACNA2D3 Zornitza Stark reviewed gene: CACNA2D3: Rating: RED; Mode of pathogenicity: None; Publications: 31275518, 22542183, 23375656; Phenotypes: ; Mode of inheritance: None
Autism v0.51 SOX5 Zornitza Stark Marked gene: SOX5 as ready
Autism v0.51 SOX5 Zornitza Stark Added comment: Comment when marking as ready: Note many cases reported of intragenic deletion.
Autism v0.51 SOX5 Zornitza Stark Gene: sox5 has been classified as Green List (High Evidence).
Autism v0.51 SOX5 Zornitza Stark Phenotypes for gene: SOX5 were changed from Lamb-Shaffer syndrome, MIM#616803 to Lamb-Shaffer syndrome, MIM#616803
Autism v0.50 SOX5 Zornitza Stark Phenotypes for gene: SOX5 were changed from to Lamb-Shaffer syndrome, MIM#616803
Autism v0.49 SOX5 Zornitza Stark Publications for gene: SOX5 were set to 31578471
Autism v0.48 SOX5 Zornitza Stark Publications for gene: SOX5 were set to
Autism v0.47 SOX5 Zornitza Stark Mode of inheritance for gene: SOX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.46 KMT5B Zornitza Stark Marked gene: KMT5B as ready
Autism v0.46 KMT5B Zornitza Stark Gene: kmt5b has been classified as Green List (High Evidence).
Autism v0.46 KMT5B Zornitza Stark Phenotypes for gene: KMT5B were changed from to Mental retardation, autosomal dominant 51, MIM#617788
Autism v0.45 KMT5B Zornitza Stark Publications for gene: KMT5B were set to
Autism v0.44 KMT5B Zornitza Stark Mode of inheritance for gene: KMT5B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.43 SOX5 Elena Savva reviewed gene: SOX5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31578471; Phenotypes: Lamb-Shaffer syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Autism v0.43 NTNG1 Zornitza Stark Marked gene: NTNG1 as ready
Autism v0.43 NTNG1 Zornitza Stark Gene: ntng1 has been classified as Red List (Low Evidence).
Autism v0.43 NTNG1 Zornitza Stark Classified gene: NTNG1 as Red List (low evidence)
Autism v0.43 NTNG1 Zornitza Stark Gene: ntng1 has been classified as Red List (Low Evidence).
Autism v0.42 NTNG1 Zornitza Stark reviewed gene: NTNG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Autism v0.42 CTNND2 Zornitza Stark Marked gene: CTNND2 as ready
Autism v0.42 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).
Autism v0.42 CTNND2 Zornitza Stark Classified gene: CTNND2 as Amber List (moderate evidence)
Autism v0.42 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).
Autism v0.41 CTNND2 Zornitza Stark Phenotypes for gene: CTNND2 were changed from to Intellectual disability; Autism; Epilepsy
Autism v0.40 CTNND2 Zornitza Stark Publications for gene: CTNND2 were set to
Autism v0.39 CTNND2 Zornitza Stark Mode of inheritance for gene: CTNND2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.38 CTNND2 Zornitza Stark reviewed gene: CTNND2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25839933, 29127138, 25807484; Phenotypes: Intellectual disability, Autism, Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.38 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Autism v0.37 Zornitza Stark Panel name changed from Autism_VCGS to Autism
Panel types changed to Victorian Clinical Genetics Services
Autism v0.36 ZSWIM6 Zornitza Stark Mode of pathogenicity for gene: ZSWIM6 was changed from Other to None
Autism v0.35 FOXP1 Zornitza Stark Phenotypes for gene: FOXP1 were changed from Mental retardation with language impairment and with or without autistic features, MIM# 613670 to Mental retardation with language impairment and with or without autistic features, MIM# 613670
Autism v0.34 FOXP1 Zornitza Stark Marked gene: FOXP1 as ready
Autism v0.34 FOXP1 Zornitza Stark Gene: foxp1 has been classified as Green List (High Evidence).
Autism v0.34 FOXP1 Zornitza Stark Phenotypes for gene: FOXP1 were changed from to Mental retardation with language impairment and with or without autistic features, MIM# 613670
Autism v0.33 FOXP1 Zornitza Stark Publications for gene: FOXP1 were set to
Autism v0.33 FOXP1 Zornitza Stark Mode of inheritance for gene: FOXP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.32 FOXP1 Zornitza Stark Mode of inheritance for gene: FOXP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.31 FOXP1 Zornitza Stark reviewed gene: FOXP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26633542, 28741757; Phenotypes: Mental retardation with language impairment and with or without autistic features, MIM# 613670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.31 RANBP17 Zornitza Stark Marked gene: RANBP17 as ready
Autism v0.31 RANBP17 Zornitza Stark Gene: ranbp17 has been classified as Red List (Low Evidence).
Autism v0.31 RANBP17 Zornitza Stark Classified gene: RANBP17 as Red List (low evidence)
Autism v0.31 RANBP17 Zornitza Stark Gene: ranbp17 has been classified as Red List (Low Evidence).
Autism v0.30 RANBP17 Zornitza Stark reviewed gene: RANBP17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Autism v0.30 ASXL3 Zornitza Stark Marked gene: ASXL3 as ready
Autism v0.30 ASXL3 Zornitza Stark Gene: asxl3 has been classified as Green List (High Evidence).
Autism v0.30 ASXL3 Zornitza Stark Phenotypes for gene: ASXL3 were changed from to Bainbridge-Ropers syndrome (OMIM # 615485)
Autism v0.30 ASXL3 Zornitza Stark Publications for gene: ASXL3 were set to 28100473; 27901041; 23383720
Autism v0.29 ASXL3 Zornitza Stark Publications for gene: ASXL3 were set to
Autism v0.28 ASXL3 Zornitza Stark Mode of inheritance for gene: ASXL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.27 ASXL3 Zornitza Stark reviewed gene: ASXL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28100473, 27901041, 23383720; Phenotypes: Bainbridge-Ropers syndrome (OMIM # 615485); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.27 WDFY3 Zornitza Stark Marked gene: WDFY3 as ready
Autism v0.27 WDFY3 Zornitza Stark Gene: wdfy3 has been classified as Green List (High Evidence).
Autism v0.27 WDFY3 Zornitza Stark Phenotypes for gene: WDFY3 were changed from to Microcephaly 18, primary, autosomal dominant, MIM#617520
Autism v0.26 WDFY3 Zornitza Stark Publications for gene: WDFY3 were set to 31327001; 27008544
Autism v0.26 WDFY3 Zornitza Stark Mode of inheritance for gene: WDFY3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.25 WDFY3 Zornitza Stark Publications for gene: WDFY3 were set to
Autism v0.25 WDFY3 Zornitza Stark Mode of inheritance for gene: WDFY3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.24 SETD5 Zornitza Stark Marked gene: SETD5 as ready
Autism v0.24 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.
Autism v0.24 SETD5 Zornitza Stark Gene: setd5 has been classified as Green List (High Evidence).
Autism v0.24 SETD5 Zornitza Stark Phenotypes for gene: SETD5 were changed from to Intellectual disability, autosomal dominant 23 (MIM # 615761)
Autism v0.23 SETD5 Zornitza Stark Publications for gene: SETD5 were set to
Autism v0.22 SETD5 Zornitza Stark Mode of inheritance for gene: SETD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.21 SHANK1 Zornitza Stark Marked gene: SHANK1 as ready
Autism v0.21 SHANK1 Zornitza Stark Gene: shank1 has been classified as Green List (High Evidence).
Autism v0.21 SHANK1 Zornitza Stark Phenotypes for gene: SHANK1 were changed from to Autism
Autism v0.20 SHANK1 Zornitza Stark Classified gene: SHANK1 as Green List (high evidence)
Autism v0.20 SHANK1 Zornitza Stark Gene: shank1 has been classified as Green List (High Evidence).
Autism v0.19 MET Zornitza Stark Marked gene: MET as ready
Autism v0.19 MET Zornitza Stark Gene: met has been classified as Red List (Low Evidence).
Autism v0.19 MET Zornitza Stark Phenotypes for gene: MET were changed from to ?Deafness, autosomal recessive 97, OMIM #616705; {Osteofibrous dysplasia, susceptibility to}, OMIM #607278
Autism v0.19 MET Zornitza Stark Mode of inheritance for gene: MET was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autism v0.19 MET Zornitza Stark Classified gene: MET as Red List (low evidence)
Autism v0.19 MET Zornitza Stark Gene: met has been classified as Red List (Low Evidence).
Autism v0.18 SHANK1 Sebastian Lunke gene: SHANK1 was added
gene: SHANK1 was added to Autism_VCGS. Sources: Literature
Mode of inheritance for gene: SHANK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SHANK1 were set to 25188300; 22503632
Penetrance for gene: SHANK1 were set to unknown
Review for gene: SHANK1 was set to GREEN
Added comment: SHANK1 missense and deletion variants have been described in multiple male patients (>10) with autism spectrum disorder. Several of the patients analysed in detail had normal intellect using various different IQ tests, with mild to moderately severe ADI-R scores for social, verbal, non-verbal and repetitive behaviour (Leblond et al 2014).
Sources: Literature
Autism v0.17 ZSWIM6 Zornitza Stark Marked gene: ZSWIM6 as ready
Autism v0.17 ZSWIM6 Zornitza Stark Gene: zswim6 has been classified as Green List (High Evidence).
Autism v0.17 ZSWIM6 Zornitza Stark Publications for gene: ZSWIM6 were set to (PMID: 29198722)
Autism v0.16 ZSWIM6 Zornitza Stark Classified gene: ZSWIM6 as Green List (high evidence)
Autism v0.16 ZSWIM6 Zornitza Stark Gene: zswim6 has been classified as Green List (High Evidence).
Autism v0.15 ZSWIM6 Elizabeth Palmer gene: ZSWIM6 was added
gene: ZSWIM6 was added to Autism_VCGS. Sources: Literature
Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZSWIM6 were set to (PMID: 29198722)
Phenotypes for gene: ZSWIM6 were set to NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES; NEDMAGA
Penetrance for gene: ZSWIM6 were set to Complete
Mode of pathogenicity for gene: ZSWIM6 was set to Other
Review for gene: ZSWIM6 was set to GREEN
Added comment: In our 2017 paper autistic features were prominent in the 7 published patients with a recurrent de novo variant in ZSWIM6 R913X. The mutant transcript escapes nonsense mediated decay and therefore likely produces a truncated protein. Palmer, E. E., Kumar, R., Gordon, C. T., Shaw, M., Hubert, L., Carroll, R., Rio, M., Murray, L., Leffler, M., Dudding-Byth, T., Oufadem, M., Lalani, S. R., and 31 others. A recurrent de novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformations. Am. J. Hum. Genet. 101: 995-1005, 2017. [PubMed: 29198722]
Sources: Literature
Autism v0.15 DSCAM Natasha Brown Marked gene: DSCAM as ready
Autism v0.15 DSCAM Natasha Brown Gene: dscam has been classified as Green List (High Evidence).
Autism v0.15 DSCAM Natasha Brown Phenotypes for gene: DSCAM were changed from to Autism
Autism v0.14 DSCAM Natasha Brown Publications for gene: DSCAM were set to
Autism v0.13 DSCAM Natasha Brown Mode of inheritance for gene: DSCAM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.12 DSCAM Natasha Brown reviewed gene: DSCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27824329, 28191889, 21904980; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.11 CSDE1 Zornitza Stark Marked gene: CSDE1 as ready
Autism v0.11 CSDE1 Zornitza Stark Gene: csde1 has been classified as Green List (High Evidence).
Autism v0.11 CSDE1 Zornitza Stark Classified gene: CSDE1 as Green List (high evidence)
Autism v0.11 CSDE1 Zornitza Stark Gene: csde1 has been classified as Green List (High Evidence).
Autism v0.10 CSDE1 Zornitza Stark gene: CSDE1 was added
gene: CSDE1 was added to Autism_VCGS. Sources: Literature
Mode of inheritance for gene: CSDE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CSDE1 were set to 31579823
Phenotypes for gene: CSDE1 were set to Autism; intellectual disability; seizures; macrocephaly
Review for gene: CSDE1 was set to GREEN
Added comment: 18 families reported with high impact (stoppage/frameshift) variants in this gene. Eight de novo, eight inherited, two with undetermined inheritance. Functional data. Parents who had the variants were also affected, though generally more mildly.
Sources: Literature
Autism v0.9 CNTN4 Zornitza Stark Marked gene: CNTN4 as ready
Autism v0.9 CNTN4 Zornitza Stark Gene: cntn4 has been classified as Red List (Low Evidence).
Autism v0.9 CNTN4 Zornitza Stark Classified gene: CNTN4 as Red List (low evidence)
Autism v0.9 CNTN4 Zornitza Stark Gene: cntn4 has been classified as Red List (Low Evidence).
Autism v0.8 CNTN4 Zornitza Stark Phenotypes for gene: CNTN4 were changed from to Intellectual disability; SCA
Autism v0.7 CNTN4 Zornitza Stark Publications for gene: CNTN4 were set to
Autism v0.7 CNTN4 Zornitza Stark Classified gene: CNTN4 as Red List (low evidence)
Autism v0.7 CNTN4 Zornitza Stark Gene: cntn4 has been classified as Red List (Low Evidence).
Autism v0.6 CNTN4 Zornitza Stark Mode of inheritance for gene: CNTN4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.5 CNTN4 Zornitza Stark reviewed gene: CNTN4: Rating: RED; Mode of pathogenicity: None; Publications: 15106122, 18349135, 17932120; Phenotypes: Intellectual disability, SCA; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.5 SYNE1 Zornitza Stark Marked gene: SYNE1 as ready
Autism v0.5 SYNE1 Zornitza Stark Gene: syne1 has been classified as Red List (Low Evidence).
Autism v0.5 SYNE1 Zornitza Stark Classified gene: SYNE1 as Red List (low evidence)
Autism v0.5 SYNE1 Zornitza Stark Gene: syne1 has been classified as Red List (Low Evidence).
Autism v0.4 SYNE1 Zornitza Stark reviewed gene: SYNE1: Rating: RED; Mode of pathogenicity: None; Publications: 23352163; Phenotypes: Autism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autism v0.4 TNRC6B Zornitza Stark Marked gene: TNRC6B as ready
Autism v0.4 TNRC6B Zornitza Stark Gene: tnrc6b has been classified as Red List (Low Evidence).
Autism v0.4 TNRC6B Zornitza Stark Classified gene: TNRC6B as Red List (low evidence)
Autism v0.4 TNRC6B Zornitza Stark Gene: tnrc6b has been classified as Red List (Low Evidence).
Autism v0.2 RNF135 Zornitza Stark Marked gene: RNF135 as ready
Autism v0.2 RNF135 Zornitza Stark Gene: rnf135 has been classified as Red List (Low Evidence).
Autism v0.2 RNF135 Zornitza Stark Classified gene: RNF135 as Red List (low evidence)
Autism v0.2 RNF135 Zornitza Stark Gene: rnf135 has been classified as Red List (Low Evidence).
Autism v0.0 ZBTB20 Zornitza Stark gene: ZBTB20 was added
gene: ZBTB20 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZBTB20 was set to Unknown
Autism v0.0 WDFY3 Zornitza Stark gene: WDFY3 was added
gene: WDFY3 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDFY3 was set to Unknown
Autism v0.0 WAC Zornitza Stark gene: WAC was added
gene: WAC was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WAC was set to Unknown
Autism v0.0 VPS13B Zornitza Stark gene: VPS13B was added
gene: VPS13B was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VPS13B was set to Unknown
Autism v0.0 USP7 Zornitza Stark gene: USP7 was added
gene: USP7 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: USP7 was set to Unknown
Autism v0.0 UPF3B Zornitza Stark gene: UPF3B was added
gene: UPF3B was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UPF3B was set to Unknown
Autism v0.0 UNC13A Zornitza Stark gene: UNC13A was added
gene: UNC13A was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UNC13A was set to Unknown
Autism v0.0 UBE3A Zornitza Stark gene: UBE3A was added
gene: UBE3A was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UBE3A was set to Unknown
Autism v0.0 TSC2 Zornitza Stark gene: TSC2 was added
gene: TSC2 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSC2 was set to Unknown
Autism v0.0 TSC1 Zornitza Stark gene: TSC1 was added
gene: TSC1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSC1 was set to Unknown
Autism v0.0 TRIP12 Zornitza Stark gene: TRIP12 was added
gene: TRIP12 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRIP12 was set to Unknown
Autism v0.0 TNRC6B Zornitza Stark gene: TNRC6B was added
gene: TNRC6B was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNRC6B was set to Unknown
Autism v0.0 TCF4 Zornitza Stark gene: TCF4 was added
gene: TCF4 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TCF4 was set to Unknown
Autism v0.0 TBR1 Zornitza Stark gene: TBR1 was added
gene: TBR1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBR1 was set to Unknown
Autism v0.0 TAF1 Zornitza Stark gene: TAF1 was added
gene: TAF1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TAF1 was set to Unknown
Autism v0.0 SYNGAP1 Zornitza Stark gene: SYNGAP1 was added
gene: SYNGAP1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SYNGAP1 was set to Unknown
Autism v0.0 SYNE1 Zornitza Stark gene: SYNE1 was added
gene: SYNE1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SYNE1 was set to Unknown
Autism v0.0 STXBP1 Zornitza Stark gene: STXBP1 was added
gene: STXBP1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STXBP1 was set to Unknown
Autism v0.0 STAG1 Zornitza Stark gene: STAG1 was added
gene: STAG1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STAG1 was set to Unknown
Autism v0.0 SPAST Zornitza Stark gene: SPAST was added
gene: SPAST was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SPAST was set to Unknown
Autism v0.0 SOX5 Zornitza Stark gene: SOX5 was added
gene: SOX5 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SOX5 was set to Unknown
Autism v0.0 SNX14 Zornitza Stark gene: SNX14 was added
gene: SNX14 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SNX14 was set to Unknown
Autism v0.0 SMARCA2 Zornitza Stark gene: SMARCA2 was added
gene: SMARCA2 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMARCA2 was set to Unknown
Autism v0.0 SLC9A6 Zornitza Stark gene: SLC9A6 was added
gene: SLC9A6 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC9A6 was set to Unknown
Autism v0.0 SLC6A1 Zornitza Stark gene: SLC6A1 was added
gene: SLC6A1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC6A1 was set to Unknown
Autism v0.0 SIN3A Zornitza Stark gene: SIN3A was added
gene: SIN3A was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SIN3A was set to Unknown
Autism v0.0 SHANK3 Zornitza Stark gene: SHANK3 was added
gene: SHANK3 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SHANK3 was set to Unknown
Autism v0.0 SHANK2 Zornitza Stark gene: SHANK2 was added
gene: SHANK2 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SHANK2 was set to Unknown
Autism v0.0 SGSH Zornitza Stark gene: SGSH was added
gene: SGSH was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SGSH was set to Unknown
Autism v0.0 SETD5 Zornitza Stark gene: SETD5 was added
gene: SETD5 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SETD5 was set to Unknown
Autism v0.0 SETD1B Zornitza Stark gene: SETD1B was added
gene: SETD1B was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SETD1B was set to Unknown
Autism v0.0 SCN9A Zornitza Stark gene: SCN9A was added
gene: SCN9A was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCN9A was set to Unknown
Autism v0.0 SCN2A Zornitza Stark gene: SCN2A was added
gene: SCN2A was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCN2A was set to Unknown
Autism v0.0 SCN1A Zornitza Stark gene: SCN1A was added
gene: SCN1A was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCN1A was set to Unknown
Autism v0.0 SATB2 Zornitza Stark gene: SATB2 was added
gene: SATB2 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SATB2 was set to Unknown
Autism v0.0 RPS6KA3 Zornitza Stark gene: RPS6KA3 was added
gene: RPS6KA3 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS6KA3 was set to Unknown
Autism v0.0 RNF135 Zornitza Stark gene: RNF135 was added
gene: RNF135 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RNF135 was set to Unknown
Autism v0.0 RIMS1 Zornitza Stark gene: RIMS1 was added
gene: RIMS1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RIMS1 was set to Unknown
Autism v0.0 RERE Zornitza Stark gene: RERE was added
gene: RERE was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RERE was set to Unknown
Autism v0.0 RELN Zornitza Stark gene: RELN was added
gene: RELN was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RELN was set to Unknown
Autism v0.0 RANBP17 Zornitza Stark gene: RANBP17 was added
gene: RANBP17 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RANBP17 was set to Unknown
Autism v0.0 RAI1 Zornitza Stark gene: RAI1 was added
gene: RAI1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAI1 was set to Unknown
Autism v0.0 PTPN11 Zornitza Stark gene: PTPN11 was added
gene: PTPN11 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTPN11 was set to Unknown
Autism v0.0 PTEN Zornitza Stark gene: PTEN was added
gene: PTEN was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTEN was set to Unknown
Autism v0.0 PTCHD1 Zornitza Stark gene: PTCHD1 was added
gene: PTCHD1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTCHD1 was set to Unknown
Autism v0.0 PRODH Zornitza Stark gene: PRODH was added
gene: PRODH was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRODH was set to Unknown
Autism v0.0 PPP2R5D Zornitza Stark gene: PPP2R5D was added
gene: PPP2R5D was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PPP2R5D was set to Unknown
Autism v0.0 POGZ Zornitza Stark gene: POGZ was added
gene: POGZ was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POGZ was set to Unknown
Autism v0.0 PIK3R2 Zornitza Stark gene: PIK3R2 was added
gene: PIK3R2 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIK3R2 was set to Unknown
Autism v0.0 PCDH19 Zornitza Stark gene: PCDH19 was added
gene: PCDH19 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PCDH19 was set to Unknown
Autism v0.0 PCCB Zornitza Stark gene: PCCB was added
gene: PCCB was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PCCB was set to Unknown
Autism v0.0 PCCA Zornitza Stark gene: PCCA was added
gene: PCCA was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PCCA was set to Unknown
Autism v0.0 PAX6 Zornitza Stark gene: PAX6 was added
gene: PAX6 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PAX6 was set to Unknown
Autism v0.0 PACS1 Zornitza Stark gene: PACS1 was added
gene: PACS1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PACS1 was set to Unknown
Autism v0.0 OCRL Zornitza Stark gene: OCRL was added
gene: OCRL was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OCRL was set to Unknown
Autism v0.0 NTNG1 Zornitza Stark gene: NTNG1 was added
gene: NTNG1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NTNG1 was set to Unknown
Autism v0.0 NSD1 Zornitza Stark gene: NSD1 was added
gene: NSD1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NSD1 was set to Unknown
Autism v0.0 NRXN1 Zornitza Stark gene: NRXN1 was added
gene: NRXN1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NRXN1 was set to Unknown
Autism v0.0 NR2F1 Zornitza Stark gene: NR2F1 was added
gene: NR2F1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NR2F1 was set to Unknown
Autism v0.0 NLGN3 Zornitza Stark gene: NLGN3 was added
gene: NLGN3 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NLGN3 was set to Unknown
Autism v0.0 NIPBL Zornitza Stark gene: NIPBL was added
gene: NIPBL was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NIPBL was set to Unknown
Autism v0.0 NFIX Zornitza Stark gene: NFIX was added
gene: NFIX was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NFIX was set to Unknown
Autism v0.0 NF1 Zornitza Stark gene: NF1 was added
gene: NF1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NF1 was set to Unknown
Autism v0.0 NCKAP1 Zornitza Stark gene: NCKAP1 was added
gene: NCKAP1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NCKAP1 was set to Unknown
Autism v0.0 NACC1 Zornitza Stark gene: NACC1 was added
gene: NACC1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NACC1 was set to Unknown
Autism v0.0 NAA15 Zornitza Stark gene: NAA15 was added
gene: NAA15 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NAA15 was set to Unknown
Autism v0.0 MET Zornitza Stark gene: MET was added
gene: MET was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MET was set to Unknown
Autism v0.0 MEF2C Zornitza Stark gene: MEF2C was added
gene: MEF2C was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MEF2C was set to Unknown
Autism v0.0 MED13L Zornitza Stark gene: MED13L was added
gene: MED13L was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MED13L was set to Unknown
Autism v0.0 MECP2 Zornitza Stark gene: MECP2 was added
gene: MECP2 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MECP2 was set to Unknown
Autism v0.0 MBOAT7 Zornitza Stark gene: MBOAT7 was added
gene: MBOAT7 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MBOAT7 was set to Unknown
Autism v0.0 MBD5 Zornitza Stark gene: MBD5 was added
gene: MBD5 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MBD5 was set to Unknown
Autism v0.0 MAGEL2 Zornitza Stark gene: MAGEL2 was added
gene: MAGEL2 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MAGEL2 was set to Unknown
Autism v0.0 MADD Zornitza Stark gene: MADD was added
gene: MADD was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MADD was set to Unknown
Autism v0.0 KMT5B Zornitza Stark gene: KMT5B was added
gene: KMT5B was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KMT5B was set to Unknown
Autism v0.0 KMT2C Zornitza Stark gene: KMT2C was added
gene: KMT2C was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KMT2C was set to Unknown
Autism v0.0 KMT2A Zornitza Stark gene: KMT2A was added
gene: KMT2A was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KMT2A was set to Unknown
Autism v0.0 KDM5B Zornitza Stark gene: KDM5B was added
gene: KDM5B was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KDM5B was set to Unknown
Autism v0.0 KATNAL2 Zornitza Stark gene: KATNAL2 was added
gene: KATNAL2 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KATNAL2 was set to Unknown
Autism v0.0 KAT6A Zornitza Stark gene: KAT6A was added
gene: KAT6A was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KAT6A was set to Unknown
Autism v0.0 IQSEC2 Zornitza Stark gene: IQSEC2 was added
gene: IQSEC2 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IQSEC2 was set to Unknown
Autism v0.0 INTS6 Zornitza Stark gene: INTS6 was added
gene: INTS6 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: INTS6 was set to Unknown
Autism v0.0 ILF2 Zornitza Stark gene: ILF2 was added
gene: ILF2 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ILF2 was set to Unknown
Autism v0.0 HOXA1 Zornitza Stark gene: HOXA1 was added
gene: HOXA1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HOXA1 was set to Unknown
Autism v0.0 HERC2 Zornitza Stark gene: HERC2 was added
gene: HERC2 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HERC2 was set to Unknown
Autism v0.0 HEPACAM Zornitza Stark gene: HEPACAM was added
gene: HEPACAM was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HEPACAM was set to Unknown
Autism v0.0 HDAC4 Zornitza Stark gene: HDAC4 was added
gene: HDAC4 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HDAC4 was set to Unknown
Autism v0.0 HCN1 Zornitza Stark gene: HCN1 was added
gene: HCN1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HCN1 was set to Unknown
Autism v0.0 GRIP1 Zornitza Stark gene: GRIP1 was added
gene: GRIP1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GRIP1 was set to Unknown
Autism v0.0 GRIN2B Zornitza Stark gene: GRIN2B was added
gene: GRIN2B was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GRIN2B was set to Unknown
Autism v0.0 GIGYF2 Zornitza Stark gene: GIGYF2 was added
gene: GIGYF2 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GIGYF2 was set to Unknown
Autism v0.0 GATM Zornitza Stark gene: GATM was added
gene: GATM was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GATM was set to Unknown
Autism v0.0 FOXP1 Zornitza Stark gene: FOXP1 was added
gene: FOXP1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXP1 was set to Unknown
Autism v0.0 FMR1 Zornitza Stark gene: FMR1 was added
gene: FMR1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FMR1 was set to Unknown
Autism v0.0 EP300 Zornitza Stark gene: EP300 was added
gene: EP300 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EP300 was set to Unknown
Autism v0.0 EHMT1 Zornitza Stark gene: EHMT1 was added
gene: EHMT1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EHMT1 was set to Unknown
Autism v0.0 DYRK1A Zornitza Stark gene: DYRK1A was added
gene: DYRK1A was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DYRK1A was set to Unknown
Autism v0.0 DSCAM Zornitza Stark gene: DSCAM was added
gene: DSCAM was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DSCAM was set to Unknown
Autism v0.0 DMD Zornitza Stark gene: DMD was added
gene: DMD was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DMD was set to Unknown
Autism v0.0 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DHCR7 was set to Unknown
Autism v0.0 DEAF1 Zornitza Stark gene: DEAF1 was added
gene: DEAF1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DEAF1 was set to Unknown
Autism v0.0 DDX3X Zornitza Stark gene: DDX3X was added
gene: DDX3X was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DDX3X was set to Unknown
Autism v0.0 CUL3 Zornitza Stark gene: CUL3 was added
gene: CUL3 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CUL3 was set to Unknown
Autism v0.0 CTNND2 Zornitza Stark gene: CTNND2 was added
gene: CTNND2 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CTNND2 was set to Unknown
Autism v0.0 CNTNAP2 Zornitza Stark gene: CNTNAP2 was added
gene: CNTNAP2 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CNTNAP2 was set to Unknown
Autism v0.0 CNTN4 Zornitza Stark gene: CNTN4 was added
gene: CNTN4 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CNTN4 was set to Unknown
Autism v0.0 CNOT3 Zornitza Stark gene: CNOT3 was added
gene: CNOT3 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CNOT3 was set to Unknown
Autism v0.0 CNKSR2 Zornitza Stark gene: CNKSR2 was added
gene: CNKSR2 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CNKSR2 was set to Unknown
Autism v0.0 CHKB Zornitza Stark gene: CHKB was added
gene: CHKB was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHKB was set to Unknown
Autism v0.0 CHD8 Zornitza Stark gene: CHD8 was added
gene: CHD8 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHD8 was set to Unknown
Autism v0.0 CHD7 Zornitza Stark gene: CHD7 was added
gene: CHD7 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHD7 was set to Unknown
Autism v0.0 CHD2 Zornitza Stark gene: CHD2 was added
gene: CHD2 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHD2 was set to Unknown
Autism v0.0 CDKL5 Zornitza Stark gene: CDKL5 was added
gene: CDKL5 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDKL5 was set to Unknown
Autism v0.0 CACNA2D3 Zornitza Stark gene: CACNA2D3 was added
gene: CACNA2D3 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CACNA2D3 was set to Unknown
Autism v0.0 CACNA1H Zornitza Stark gene: CACNA1H was added
gene: CACNA1H was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CACNA1H was set to Unknown
Autism v0.0 CACNA1C Zornitza Stark gene: CACNA1C was added
gene: CACNA1C was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CACNA1C was set to Unknown
Autism v0.0 C12orf57 Zornitza Stark gene: C12orf57 was added
gene: C12orf57 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C12orf57 was set to Unknown
Autism v0.0 BRAF Zornitza Stark gene: BRAF was added
gene: BRAF was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BRAF was set to Unknown
Autism v0.0 BCL11A Zornitza Stark gene: BCL11A was added
gene: BCL11A was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BCL11A was set to Unknown
Autism v0.0 BCKDK Zornitza Stark gene: BCKDK was added
gene: BCKDK was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BCKDK was set to Unknown
Autism v0.0 ASXL3 Zornitza Stark gene: ASXL3 was added
gene: ASXL3 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ASXL3 was set to Unknown
Autism v0.0 ASH1L Zornitza Stark gene: ASH1L was added
gene: ASH1L was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ASH1L was set to Unknown
Autism v0.0 ARX Zornitza Stark gene: ARX was added
gene: ARX was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARX was set to Unknown
Autism v0.0 ARID1B Zornitza Stark gene: ARID1B was added
gene: ARID1B was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARID1B was set to Unknown
Autism v0.0 ANKRD11 Zornitza Stark gene: ANKRD11 was added
gene: ANKRD11 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ANKRD11 was set to Unknown
Autism v0.0 ANK2 Zornitza Stark gene: ANK2 was added
gene: ANK2 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ANK2 was set to Unknown
Autism v0.0 ALG6 Zornitza Stark gene: ALG6 was added
gene: ALG6 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALG6 was set to Unknown
Autism v0.0 ALDH5A1 Zornitza Stark gene: ALDH5A1 was added
gene: ALDH5A1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALDH5A1 was set to Unknown
Autism v0.0 AHI1 Zornitza Stark gene: AHI1 was added
gene: AHI1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AHI1 was set to Unknown
Autism v0.0 AHDC1 Zornitza Stark gene: AHDC1 was added
gene: AHDC1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AHDC1 was set to Unknown
Autism v0.0 ADSL Zornitza Stark gene: ADSL was added
gene: ADSL was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ADSL was set to Unknown
Autism v0.0 ADNP Zornitza Stark gene: ADNP was added
gene: ADNP was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ADNP was set to Unknown
Autism v0.0 Zornitza Stark Added panel Autism_VCGS