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Chromosome Breakage Disorders v1.19 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 11779494, 16088910, 15333585, 20133615; Phenotypes: LIG4 syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v1.19 RECQL4 Zornitza Stark changed review comment from: Two families reported with a progeroid disorder, however all individuals had the same homozygous missense variant, suggestive of founder effect.; to: PMID 35025765: Two families reported with a progeroid disorder, however all individuals had the same homozygous missense variant, suggestive of founder effect.
Chromosome Breakage Disorders v1.19 RECQL4 Zornitza Stark Phenotypes for gene: RECQL4 were changed from Rothmund-Thomson syndrome, type 2, MIM# 268400; RAPADILINO syndrome, MIM# 266280; Baller-Gerold syndrome, MIM# 218600 to Rothmund-Thomson syndrome, type 2, MIM# 268400; RAPADILINO syndrome, MIM# 266280; Baller-Gerold syndrome, MIM# 218600; RECON progeroid syndrome, MIM# 620370
Chromosome Breakage Disorders v1.18 RECQL4 Zornitza Stark Publications for gene: RECQL4 were set to 10319867; 12952869; 15964893
Chromosome Breakage Disorders v1.17 RECQL4 Zornitza Stark edited their review of gene: RECQL4: Added comment: Two families reported with a progeroid disorder, however all individuals had the same homozygous missense variant, suggestive of founder effect.; Changed publications: 10319867, 12952869, 15964893, 35025765
Chromosome Breakage Disorders v1.17 RECQL4 Zornitza Stark edited their review of gene: RECQL4: Changed phenotypes: Rothmund-Thomson syndrome, type 2, MIM# 268400, RAPADILINO syndrome, MIM# 266280, Baller-Gerold syndrome, MIM# 218600, RECON progeroid syndrome, MIM# 620370
Chromosome Breakage Disorders v1.17 SMC5 Zornitza Stark Phenotypes for gene: SMC5 were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID to Atelis syndrome 2, MIM# 620185
Chromosome Breakage Disorders v1.16 SMC5 Zornitza Stark edited their review of gene: SMC5: Changed phenotypes: Atelis syndrome 2, MIM# 620185
Chromosome Breakage Disorders v1.16 SLF2 Zornitza Stark Phenotypes for gene: SLF2 were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID to Atelis syndrome 1, MIM# 620184
Chromosome Breakage Disorders v1.15 SLF2 Zornitza Stark edited their review of gene: SLF2: Changed phenotypes: Atelis syndrome 1, MIM# 620184
Chromosome Breakage Disorders v1.15 SMC5 Zornitza Stark changed review comment from: Four individuals from three families with a chromosome breakage disorder and bi-allelic variants in this gene. However, three of the individuals had the same homozygous missense variant. Evidence for functional impact of the variant was limited. However, zebrafish model recapitulated the phenotype and was not rescued by the introduction of this variant, arguing for functional effect. Borderline Amber/Green.
Sources: Literature; to: Four individuals from three families with a chromosome breakage disorder and bi-allelic variants in this gene. However, three of the individuals had the same homozygous missense variant. Evidence for functional impact of the variant was limited. However, zebrafish model recapitulated the phenotype and was not rescued by the introduction of this variant, arguing for functional effect. Borderline Amber/Green.

Increased chromosome breakage is a feature.
Sources: Literature
Chromosome Breakage Disorders v1.15 SMC5 Zornitza Stark Marked gene: SMC5 as ready
Chromosome Breakage Disorders v1.15 SMC5 Zornitza Stark Gene: smc5 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v1.15 SMC5 Zornitza Stark Classified gene: SMC5 as Green List (high evidence)
Chromosome Breakage Disorders v1.15 SMC5 Zornitza Stark Gene: smc5 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v1.14 SMC5 Zornitza Stark gene: SMC5 was added
gene: SMC5 was added to Chromosome Breakage Disorders. Sources: Literature
Mode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMC5 were set to 36333305
Phenotypes for gene: SMC5 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID
Review for gene: SMC5 was set to GREEN
Added comment: Four individuals from three families with a chromosome breakage disorder and bi-allelic variants in this gene. However, three of the individuals had the same homozygous missense variant. Evidence for functional impact of the variant was limited. However, zebrafish model recapitulated the phenotype and was not rescued by the introduction of this variant, arguing for functional effect. Borderline Amber/Green.
Sources: Literature
Chromosome Breakage Disorders v1.13 SLF2 Zornitza Stark Marked gene: SLF2 as ready
Chromosome Breakage Disorders v1.13 SLF2 Zornitza Stark Gene: slf2 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v1.13 SLF2 Zornitza Stark Classified gene: SLF2 as Green List (high evidence)
Chromosome Breakage Disorders v1.13 SLF2 Zornitza Stark Gene: slf2 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v1.12 SLF2 Zornitza Stark gene: SLF2 was added
gene: SLF2 was added to Chromosome Breakage Disorders. Sources: Literature
Mode of inheritance for gene: SLF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLF2 were set to 36333305
Phenotypes for gene: SLF2 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID
Review for gene: SLF2 was set to GREEN
Added comment: Seven individuals from 6 families with a chromosome breakage disorder and bi-allelic variants in this gene (LoF). Functional data including zebrafish model.

Increased chromosome breakage is a feature of this disorder.
Sources: Literature
Chromosome Breakage Disorders v1.11 DNMT3B Zornitza Stark Tag treatable tag was added to gene: DNMT3B.
Chromosome Breakage Disorders v1.11 Zornitza Stark List of related panels changed from to Chromosome breakage HP:0040012
Chromosome Breakage Disorders v1.10 BRIP1 Zornitza Stark Tag treatable tag was added to gene: BRIP1.
Chromosome Breakage Disorders v1.10 LIG4 Zornitza Stark Tag treatable tag was added to gene: LIG4.
Chromosome Breakage Disorders v1.10 MARS Zornitza Stark Phenotypes for gene: MARS were changed from Trichothiodystrophy, MONDO:0018053 to Trichothiodystrophy, MONDO:0018053; Trichothiodystrophy 8, nonphotosensitive, MIM# 619691Trichothiodystrophy 9, nonphotosensitive, MIM# 619692
Chromosome Breakage Disorders v1.9 MARS Zornitza Stark edited their review of gene: MARS: Changed phenotypes: Trichothiodystrophy, MONDO:0018053, Trichothiodystrophy 9, nonphotosensitive, MIM# 619692
Chromosome Breakage Disorders v1.9 AARS Zornitza Stark Phenotypes for gene: AARS were changed from Trichothiodystrophy, MONDO:0018053 to Trichothiodystrophy, MONDO:0018053; Trichothiodystrophy 8, nonphotosensitive 619691
Chromosome Breakage Disorders v1.8 AARS Zornitza Stark edited their review of gene: AARS: Changed phenotypes: Trichothiodystrophy, MONDO:0018053, Trichothiodystrophy 8, nonphotosensitive, MIM# 619691
Chromosome Breakage Disorders v1.8 MARS Zornitza Stark Marked gene: MARS as ready
Chromosome Breakage Disorders v1.8 MARS Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is MARS1.
Chromosome Breakage Disorders v1.8 MARS Zornitza Stark Gene: mars has been classified as Red List (Low Evidence).
Chromosome Breakage Disorders v1.8 MARS Zornitza Stark Tag new gene name tag was added to gene: MARS.
Chromosome Breakage Disorders v1.8 MARS Zornitza Stark Marked gene: MARS as ready
Chromosome Breakage Disorders v1.8 MARS Zornitza Stark Gene: mars has been classified as Red List (Low Evidence).
Chromosome Breakage Disorders v1.8 MARS Zornitza Stark gene: MARS was added
gene: MARS was added to Chromosome Breakage Disorders. Sources: Literature
Mode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MARS were set to 33909043
Phenotypes for gene: MARS were set to Trichothiodystrophy, MONDO:0018053
Review for gene: MARS was set to RED
Added comment: Bi-allelic ariants in this gene are associated with interstitial and liver disease.

PMID: 33909043 - Botta et al 2021 - using WES/WGS analysis of 34 unsolved cases with multi-system phenotypes, but with hair alterations that are typical of trichothiodystrophy but no reported photosensitivity, they identified a homozygous variant in one Italian patient (c.1201G > A (p.Val401Me) that is very rare (gnomAD frequency 0.00001414). Functional studies suggest that the variant affects gene product stability.

Although chromosome breakage is unlikely to be the underlying mechanism, included in this panel for completeness with a Red rating (one individual reported).
Sources: Literature
Chromosome Breakage Disorders v1.7 AARS Zornitza Stark Marked gene: AARS as ready
Chromosome Breakage Disorders v1.7 AARS Zornitza Stark Gene: aars has been classified as Amber List (Moderate Evidence).
Chromosome Breakage Disorders v1.7 AARS Zornitza Stark Classified gene: AARS as Amber List (moderate evidence)
Chromosome Breakage Disorders v1.7 AARS Zornitza Stark Gene: aars has been classified as Amber List (Moderate Evidence).
Chromosome Breakage Disorders v1.6 AARS Zornitza Stark gene: AARS was added
gene: AARS was added to Chromosome Breakage Disorders. Sources: Literature
Mode of inheritance for gene: AARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AARS were set to 33909043
Phenotypes for gene: AARS were set to Trichothiodystrophy, MONDO:0018053
Review for gene: AARS was set to AMBER
Added comment: PMID: 33909043 - Botta et al 2021 - using WES or WGS analysis of 34 unsolved cases with multi-system phenotypes, but with hair alterations that are typical of trichothiodystrophy but no reported photosensitivity, they identified 2 unrelated cases carrying 4 potentially pathogenic variants in the AARS1 gene (previously known as AARSB). Both patients had very rare compound heterozygous missense variants. In one family there was an older affected sibling but segregation data was not available for either family. Functional studies suggest that the variants affects gene product stability.

Amber rating as 2 families only, and uncertain of underlying mechanism (unlikely chromosome breakage, gene is associated with other disease entities) but included due to phenotypic overlap.
Sources: Literature
Chromosome Breakage Disorders v1.5 RNF113A Zornitza Stark Marked gene: RNF113A as ready
Chromosome Breakage Disorders v1.5 RNF113A Zornitza Stark Gene: rnf113a has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v1.5 RNF113A Zornitza Stark Classified gene: RNF113A as Green List (high evidence)
Chromosome Breakage Disorders v1.5 RNF113A Zornitza Stark Gene: rnf113a has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v1.4 RNF113A Zornitza Stark gene: RNF113A was added
gene: RNF113A was added to Chromosome Breakage Disorders. Sources: Expert Review
Mode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RNF113A were set to 25612912; 31793730; 31880405
Phenotypes for gene: RNF113A were set to Trichothiodystrophy 5, nonphotosensitive; OMIM #300953
Review for gene: RNF113A was set to GREEN
Added comment: Four families reported, two with same variant. Clinical features include ID, microcephaly, IUGR/growth failure, hypogonadism, and sparse/brittle hair.
Sources: Expert Review
Chromosome Breakage Disorders v1.3 RNF168 Zornitza Stark Marked gene: RNF168 as ready
Chromosome Breakage Disorders v1.3 RNF168 Zornitza Stark Gene: rnf168 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v1.3 RNF168 Zornitza Stark Classified gene: RNF168 as Green List (high evidence)
Chromosome Breakage Disorders v1.3 RNF168 Zornitza Stark Gene: rnf168 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v1.2 RNF168 Danielle Ariti gene: RNF168 was added
gene: RNF168 was added to Chromosome Breakage Disorders. Sources: Literature
Mode of inheritance for gene: RNF168 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF168 were set to 19203578; 21394101; 29255463; 21552324
Phenotypes for gene: RNF168 were set to RIDDLE syndrome MIM# 611943; Radiosensitivity; Immune Deficiency; Dysmorphic Features; Learning difficulties; Low IgG or IgA; Short stature; mild defect of motor control to ataxia; normal intelligence to learning difficulties; mild facial dysmorphism to microcephaly
Review for gene: RNF168 was set to GREEN
Added comment: 4 individuals from 3 unrelated families have been reported with RNF168 variants and display RIDDLE syndrome phenotype.

One mouse model; demonstrated RNF168 deficient mice are immunodeficient and exhibit increased radiosensitivity.

Homozygous and Compound heterozygous (duplications, deletions and nonsense) variants identified resulting in frameshift, aberrant protein and alteration of binding motifs.

Typically presents with increased radiosensitivity, immunodeficiency (decrease IgA), mild motor control and learning difficulties, facial dysmorphism, and short stature.
Sources: Literature
Chromosome Breakage Disorders v1.2 SPRTN Zornitza Stark Marked gene: SPRTN as ready
Chromosome Breakage Disorders v1.2 SPRTN Zornitza Stark Gene: sprtn has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v1.2 SPRTN Zornitza Stark Classified gene: SPRTN as Green List (high evidence)
Chromosome Breakage Disorders v1.2 SPRTN Zornitza Stark Gene: sprtn has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v1.1 SPRTN Zornitza Stark gene: SPRTN was added
gene: SPRTN was added to Chromosome Breakage Disorders. Sources: Expert Review
Mode of inheritance for gene: SPRTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRTN were set to 25261934
Phenotypes for gene: SPRTN were set to Ruijs-Aalfs syndrome, MIM# 616200; MONDO:0014527
Review for gene: SPRTN was set to GREEN
Added comment: Two families with functional evidence for a DNA repair disorder; progeroid features and hepatocellular carcinoma reported as key features.
Sources: Expert Review
Chromosome Breakage Disorders v1.0 Zornitza Stark promoted panel to version 1.0
Chromosome Breakage Disorders v0.173 Zornitza Stark removed gene:TYR from the panel
Chromosome Breakage Disorders v0.172 ERCC8 Zornitza Stark Marked gene: ERCC8 as ready
Chromosome Breakage Disorders v0.172 ERCC8 Zornitza Stark Gene: ercc8 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.172 PNKP Zornitza Stark Marked gene: PNKP as ready
Chromosome Breakage Disorders v0.172 PNKP Zornitza Stark Gene: pnkp has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.172 PNKP Zornitza Stark Classified gene: PNKP as Green List (high evidence)
Chromosome Breakage Disorders v0.172 PNKP Zornitza Stark Gene: pnkp has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.171 PNKP Zornitza Stark gene: PNKP was added
gene: PNKP was added to Chromosome Breakage Disorders. Sources: Expert Review
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNKP were set to 20118933; 25728773
Phenotypes for gene: PNKP were set to Ataxia-oculomotor apraxia 4, MIM# 616267; Microcephaly, seizures, and developmental delay, MIM# 613402
Review for gene: PNKP was set to GREEN
Added comment: Enzyme involved in DNA repair.

Ataxia-oculomotor apraxia 4, MIM# 616267 typically has onset in first decade, whereas Microcephaly, seizures, and developmental delay, MIM# 613402 is congenital.
Sources: Expert Review
Chromosome Breakage Disorders v0.170 HELLS Zornitza Stark Marked gene: HELLS as ready
Chromosome Breakage Disorders v0.170 HELLS Zornitza Stark Gene: hells has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.170 HELLS Zornitza Stark Classified gene: HELLS as Green List (high evidence)
Chromosome Breakage Disorders v0.170 HELLS Zornitza Stark Gene: hells has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.169 HELLS Zornitza Stark gene: HELLS was added
gene: HELLS was added to Chromosome Breakage Disorders. Sources: Expert Review
Mode of inheritance for gene: HELLS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HELLS were set to 26216346
Phenotypes for gene: HELLS were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM# 616911; MONDO:0014829
Review for gene: HELLS was set to GREEN
Added comment: Immunodeficiency-centromeric instability-facial anomalies syndrome-4 is characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable.

At least 4 unrelated families reported.
Sources: Expert Review
Chromosome Breakage Disorders v0.168 ZBTB24 Zornitza Stark Marked gene: ZBTB24 as ready
Chromosome Breakage Disorders v0.168 ZBTB24 Zornitza Stark Gene: zbtb24 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.168 ZBTB24 Zornitza Stark Classified gene: ZBTB24 as Green List (high evidence)
Chromosome Breakage Disorders v0.168 ZBTB24 Zornitza Stark Gene: zbtb24 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.167 ZBTB24 Zornitza Stark gene: ZBTB24 was added
gene: ZBTB24 was added to Chromosome Breakage Disorders. Sources: Expert Review
Mode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB24 were set to 21596365; 21906047; 23486536
Phenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM# 614069; MONDO:0013553
Review for gene: ZBTB24 was set to GREEN
Added comment: Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and intellectual disability. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohaemagglutinin stimulation.

20 unrelated families reported.
Sources: Expert Review
Chromosome Breakage Disorders v0.166 CDCA7 Zornitza Stark Marked gene: CDCA7 as ready
Chromosome Breakage Disorders v0.166 CDCA7 Zornitza Stark Gene: cdca7 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.166 CDCA7 Zornitza Stark Phenotypes for gene: CDCA7 were changed from Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910 to Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910; MONDO:0014828
Chromosome Breakage Disorders v0.165 CDCA7 Zornitza Stark Classified gene: CDCA7 as Green List (high evidence)
Chromosome Breakage Disorders v0.165 CDCA7 Zornitza Stark Gene: cdca7 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.164 CDCA7 Zornitza Stark gene: CDCA7 was added
gene: CDCA7 was added to Chromosome Breakage Disorders. Sources: Expert Review
Mode of inheritance for gene: CDCA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDCA7 were set to 26216346
Phenotypes for gene: CDCA7 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910
Review for gene: CDCA7 was set to GREEN
Added comment: Immunodeficiency-centromeric instability-facial anomalies syndrome-3 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development.

At least 4 unrelated families reported.
Sources: Expert Review
Chromosome Breakage Disorders v0.163 DNMT3B Zornitza Stark Marked gene: DNMT3B as ready
Chromosome Breakage Disorders v0.163 DNMT3B Zornitza Stark Gene: dnmt3b has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.163 DNMT3B Zornitza Stark Classified gene: DNMT3B as Green List (high evidence)
Chromosome Breakage Disorders v0.163 DNMT3B Zornitza Stark Gene: dnmt3b has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.162 DNMT3B Zornitza Stark gene: DNMT3B was added
gene: DNMT3B was added to Chromosome Breakage Disorders. Sources: Expert Review
Mode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNMT3B were set to 10647011; 23486536
Phenotypes for gene: DNMT3B were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860
Review for gene: DNMT3B was set to GREEN
Added comment: Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disease characterized by facial dysmorphism, immunoglobulin deficiency, and branching of chromosomes 1, 9, and 16 after phytohemagglutinin (PHA) stimulation of lymphocytes.

More than 20 unrelated families reported.
Sources: Expert Review
Chromosome Breakage Disorders v0.161 XRCC4 Zornitza Stark Marked gene: XRCC4 as ready
Chromosome Breakage Disorders v0.161 XRCC4 Zornitza Stark Gene: xrcc4 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.161 XRCC4 Zornitza Stark Phenotypes for gene: XRCC4 were changed from to Short stature, microcephaly, and endocrine dysfunction, MIM# 616541; MONDO:0014686
Chromosome Breakage Disorders v0.160 XRCC4 Zornitza Stark Publications for gene: XRCC4 were set to
Chromosome Breakage Disorders v0.159 XRCC4 Zornitza Stark Mode of inheritance for gene: XRCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.158 XRCC4 Zornitza Stark reviewed gene: XRCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24389050, 25728776, 25872942; Phenotypes: Short stature, microcephaly, and endocrine dysfunction, MIM# 616541, MONDO:0014686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.158 XPC Zornitza Stark Marked gene: XPC as ready
Chromosome Breakage Disorders v0.158 XPC Zornitza Stark Gene: xpc has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.158 XPC Zornitza Stark Phenotypes for gene: XPC were changed from to Xeroderma pigmentosum, group C, MIM# 278720; MONDO:0010211
Chromosome Breakage Disorders v0.157 XPC Zornitza Stark Publications for gene: XPC were set to
Chromosome Breakage Disorders v0.156 XPC Zornitza Stark Mode of inheritance for gene: XPC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.155 XPC Zornitza Stark reviewed gene: XPC: Rating: GREEN; Mode of pathogenicity: None; Publications: 10447254; Phenotypes: Xeroderma pigmentosum, group C, MIM# 278720, MONDO:0010211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.155 XPA Zornitza Stark Marked gene: XPA as ready
Chromosome Breakage Disorders v0.155 XPA Zornitza Stark Gene: xpa has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.155 XPA Zornitza Stark Phenotypes for gene: XPA were changed from to Xeroderma pigmentosum, group A , MIM#278700; MONDO:0010210
Chromosome Breakage Disorders v0.154 XPA Zornitza Stark Publications for gene: XPA were set to
Chromosome Breakage Disorders v0.153 XPA Zornitza Stark Mode of inheritance for gene: XPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.152 XPA Zornitza Stark reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 2234061, 1372102; Phenotypes: Xeroderma pigmentosum, group A , MIM#278700, MONDO:0010210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.152 RMI2 Zornitza Stark Marked gene: RMI2 as ready
Chromosome Breakage Disorders v0.152 RMI2 Zornitza Stark Gene: rmi2 has been classified as Amber List (Moderate Evidence).
Chromosome Breakage Disorders v0.152 RMI2 Zornitza Stark Phenotypes for gene: RMI2 were changed from to Bloom-like syndrome
Chromosome Breakage Disorders v0.151 RMI2 Zornitza Stark Publications for gene: RMI2 were set to
Chromosome Breakage Disorders v0.150 RMI2 Zornitza Stark Mode of inheritance for gene: RMI2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.149 RMI2 Zornitza Stark Classified gene: RMI2 as Amber List (moderate evidence)
Chromosome Breakage Disorders v0.149 RMI2 Zornitza Stark Gene: rmi2 has been classified as Amber List (Moderate Evidence).
Chromosome Breakage Disorders v0.148 RMI2 Zornitza Stark reviewed gene: RMI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27977684; Phenotypes: Bloom-like syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.148 RECQL4 Zornitza Stark Marked gene: RECQL4 as ready
Chromosome Breakage Disorders v0.148 RECQL4 Zornitza Stark Gene: recql4 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.148 RECQL4 Zornitza Stark Phenotypes for gene: RECQL4 were changed from to Rothmund-Thomson syndrome, type 2, MIM# 268400; RAPADILINO syndrome, MIM# 266280; Baller-Gerold syndrome, MIM# 218600
Chromosome Breakage Disorders v0.147 RECQL4 Zornitza Stark Publications for gene: RECQL4 were set to
Chromosome Breakage Disorders v0.146 RECQL4 Zornitza Stark Mode of inheritance for gene: RECQL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.145 RECQL4 Zornitza Stark reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10319867, 12952869, 15964893; Phenotypes: Rothmund-Thomson syndrome, type 2, MIM# 268400, RAPADILINO syndrome, MIM# 266280, Baller-Gerold syndrome, MIM# 218600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.145 RAD51 Zornitza Stark edited their review of gene: RAD51: Changed phenotypes: Fanconi anaemia, complementation group R, MIM# 617244
Chromosome Breakage Disorders v0.145 RAD51 Zornitza Stark Phenotypes for gene: RAD51 were changed from Fanconi anemia, complementation group R, MIM# 617244 to Fanconi anaemia, complementation group R, MIM# 617244
Chromosome Breakage Disorders v0.144 RAD51 Zornitza Stark Marked gene: RAD51 as ready
Chromosome Breakage Disorders v0.144 RAD51 Zornitza Stark Gene: rad51 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.144 RAD51 Zornitza Stark Phenotypes for gene: RAD51 were changed from to Fanconi anemia, complementation group R, MIM# 617244
Chromosome Breakage Disorders v0.143 RAD51 Zornitza Stark Publications for gene: RAD51 were set to
Chromosome Breakage Disorders v0.142 RAD51 Zornitza Stark Mode of inheritance for gene: RAD51 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Chromosome Breakage Disorders v0.141 RAD51 Zornitza Stark reviewed gene: RAD51: Rating: GREEN; Mode of pathogenicity: None; Publications: 26253028, 26681308, 30907510; Phenotypes: Fanconi anemia, complementation group R, MIM# 617244; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Chromosome Breakage Disorders v0.141 POLH Zornitza Stark Marked gene: POLH as ready
Chromosome Breakage Disorders v0.141 POLH Zornitza Stark Gene: polh has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.141 POLH Zornitza Stark Phenotypes for gene: POLH were changed from to Xeroderma pigmentosum, variant type, MIM# 278750; MONDO:0010214
Chromosome Breakage Disorders v0.140 POLH Zornitza Stark Publications for gene: POLH were set to
Chromosome Breakage Disorders v0.139 POLH Zornitza Stark Mode of inheritance for gene: POLH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.138 POLH Zornitza Stark reviewed gene: POLH: Rating: GREEN; Mode of pathogenicity: None; Publications: 10385124, 10398605; Phenotypes: Xeroderma pigmentosum, variant type, MIM# 278750, MONDO:0010214; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.138 PALB2 Zornitza Stark Marked gene: PALB2 as ready
Chromosome Breakage Disorders v0.138 PALB2 Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.138 PALB2 Zornitza Stark Phenotypes for gene: PALB2 were changed from to Fanconi anaemia, complementation group N, MIM# 610832
Chromosome Breakage Disorders v0.137 PALB2 Zornitza Stark Mode of inheritance for gene: PALB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.136 PALB2 Zornitza Stark reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group N, MIM# 610832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.136 NHEJ1 Zornitza Stark Marked gene: NHEJ1 as ready
Chromosome Breakage Disorders v0.136 NHEJ1 Zornitza Stark Gene: nhej1 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.136 NHEJ1 Zornitza Stark Phenotypes for gene: NHEJ1 were changed from to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291; MONDO:0012650
Chromosome Breakage Disorders v0.135 NHEJ1 Zornitza Stark Publications for gene: NHEJ1 were set to
Chromosome Breakage Disorders v0.134 NHEJ1 Zornitza Stark Mode of inheritance for gene: NHEJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.133 NHEJ1 Zornitza Stark reviewed gene: NHEJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16439204, 16439205; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291, MONDO:0012650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.133 MRE11 Zornitza Stark Marked gene: MRE11 as ready
Chromosome Breakage Disorders v0.133 MRE11 Zornitza Stark Gene: mre11 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.133 MRE11 Zornitza Stark Phenotypes for gene: MRE11 were changed from to Ataxia-telangiectasia-like disorder 1, MIM# 604391; MONDO:0024557
Chromosome Breakage Disorders v0.132 MRE11 Zornitza Stark Publications for gene: MRE11 were set to
Chromosome Breakage Disorders v0.131 MRE11 Zornitza Stark Mode of inheritance for gene: MRE11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.130 MRE11 Zornitza Stark reviewed gene: MRE11: Rating: GREEN; Mode of pathogenicity: None; Publications: 10612394, 11371508, 15269180, 22863007, 24332946, 21227757; Phenotypes: Ataxia-telangiectasia-like disorder 1, MIM# 604391, MONDO:0024557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.130 MPLKIP Zornitza Stark Marked gene: MPLKIP as ready
Chromosome Breakage Disorders v0.130 MPLKIP Zornitza Stark Gene: mplkip has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.130 MPLKIP Zornitza Stark Phenotypes for gene: MPLKIP were changed from to Trichothiodystrophy 4, nonphotosensitive, MIM# 234050; MONDO:0021013
Chromosome Breakage Disorders v0.129 MPLKIP Zornitza Stark Publications for gene: MPLKIP were set to
Chromosome Breakage Disorders v0.128 MPLKIP Zornitza Stark Mode of inheritance for gene: MPLKIP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.127 MPLKIP Zornitza Stark reviewed gene: MPLKIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 15645389, 16977596; Phenotypes: Trichothiodystrophy 4, nonphotosensitive, MIM# 234050, MONDO:0021013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.126 GTF2H5 Zornitza Stark Marked gene: GTF2H5 as ready
Chromosome Breakage Disorders v0.126 GTF2H5 Zornitza Stark Gene: gtf2h5 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.126 GTF2H5 Zornitza Stark Phenotypes for gene: GTF2H5 were changed from to Trichothiodystrophy 3, photosensitive, MIM# 616395; MONDO:0014619
Chromosome Breakage Disorders v0.125 GTF2H5 Zornitza Stark Publications for gene: GTF2H5 were set to
Chromosome Breakage Disorders v0.124 GTF2H5 Zornitza Stark Mode of inheritance for gene: GTF2H5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.123 GTF2H5 Zornitza Stark reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: None; Publications: 15220921, 30359777, 24986372; Phenotypes: Trichothiodystrophy 3, photosensitive, MIM# 616395, MONDO:0014619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.123 GTF2E2 Zornitza Stark Phenotypes for gene: GTF2E2 were changed from Trichothiodystrophy 6, nonphotosensitive, MIM# 616943 to Trichothiodystrophy 6, nonphotosensitive, MIM# 616943; MONDO:0014841
Chromosome Breakage Disorders v0.122 GTF2E2 Zornitza Stark Marked gene: GTF2E2 as ready
Chromosome Breakage Disorders v0.122 GTF2E2 Zornitza Stark Gene: gtf2e2 has been classified as Amber List (Moderate Evidence).
Chromosome Breakage Disorders v0.122 GTF2E2 Zornitza Stark Phenotypes for gene: GTF2E2 were changed from to Trichothiodystrophy 6, nonphotosensitive, MIM# 616943
Chromosome Breakage Disorders v0.121 GTF2E2 Zornitza Stark Publications for gene: GTF2E2 were set to
Chromosome Breakage Disorders v0.120 GTF2E2 Zornitza Stark Mode of inheritance for gene: GTF2E2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.119 GTF2E2 Zornitza Stark Classified gene: GTF2E2 as Amber List (moderate evidence)
Chromosome Breakage Disorders v0.119 GTF2E2 Zornitza Stark Gene: gtf2e2 has been classified as Amber List (Moderate Evidence).
Chromosome Breakage Disorders v0.118 GTF2E2 Zornitza Stark reviewed gene: GTF2E2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26996949; Phenotypes: Trichothiodystrophy 6, nonphotosensitive, MIM# 616943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.118 TYR Zornitza Stark Marked gene: TYR as ready
Chromosome Breakage Disorders v0.118 TYR Zornitza Stark Gene: tyr has been classified as Red List (Low Evidence).
Chromosome Breakage Disorders v0.118 TYR Zornitza Stark Phenotypes for gene: TYR were changed from to Albinism, oculocutaneous, type IA, MIM# 203100
Chromosome Breakage Disorders v0.117 TYR Zornitza Stark Mode of inheritance for gene: TYR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.116 TYR Zornitza Stark Classified gene: TYR as Red List (low evidence)
Chromosome Breakage Disorders v0.116 TYR Zornitza Stark Gene: tyr has been classified as Red List (Low Evidence).
Chromosome Breakage Disorders v0.115 TYR Zornitza Stark edited their review of gene: TYR: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.115 TYR Zornitza Stark reviewed gene: TYR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, oculocutaneous, type IA, MIM# 203100; Mode of inheritance: None
Chromosome Breakage Disorders v0.115 SLX4 Zornitza Stark Marked gene: SLX4 as ready
Chromosome Breakage Disorders v0.115 SLX4 Zornitza Stark Gene: slx4 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.115 SLX4 Zornitza Stark Publications for gene: SLX4 were set to
Chromosome Breakage Disorders v0.114 SLX4 Zornitza Stark Phenotypes for gene: SLX4 were changed from to Fanconi anemia, complementation group P, MIM# 613951; MONDO:0013499
Chromosome Breakage Disorders v0.113 SLX4 Zornitza Stark Mode of inheritance for gene: SLX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.112 RAD51C Zornitza Stark Marked gene: RAD51C as ready
Chromosome Breakage Disorders v0.112 RAD51C Zornitza Stark Gene: rad51c has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.112 RAD51C Zornitza Stark Phenotypes for gene: RAD51C were changed from to Fanconi anemia, complementation group O, MIM# 613390
Chromosome Breakage Disorders v0.111 RAD51C Zornitza Stark Publications for gene: RAD51C were set to
Chromosome Breakage Disorders v0.110 RAD51C Zornitza Stark Mode of inheritance for gene: RAD51C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.109 FANCL Zornitza Stark Marked gene: FANCL as ready
Chromosome Breakage Disorders v0.109 FANCL Zornitza Stark Gene: fancl has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.109 FANCL Zornitza Stark Phenotypes for gene: FANCL were changed from to Fanconi anemia, complementation group L, MIM# 614083; MONDO:0013566
Chromosome Breakage Disorders v0.108 FANCL Zornitza Stark Publications for gene: FANCL were set to
Chromosome Breakage Disorders v0.107 FANCL Zornitza Stark Mode of inheritance for gene: FANCL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.106 FANCL Zornitza Stark reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19405097, 25754594, 33394227, 33224012; Phenotypes: Fanconi anemia, complementation group L, MIM# 614083, MONDO:0013566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.106 FANCI Zornitza Stark Marked gene: FANCI as ready
Chromosome Breakage Disorders v0.106 FANCI Zornitza Stark Gene: fanci has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.106 FANCI Zornitza Stark Phenotypes for gene: FANCI were changed from to Fanconi anemia, complementation group I, MIM# 609053; MONDO:0012186
Chromosome Breakage Disorders v0.105 FANCI Zornitza Stark Publications for gene: FANCI were set to
Chromosome Breakage Disorders v0.104 FANCI Zornitza Stark Mode of inheritance for gene: FANCI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.103 FANCI Zornitza Stark reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: None; Publications: 17452773; Phenotypes: Fanconi anemia, complementation group I, MIM# 609053, MONDO:0012186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.103 FANCG Zornitza Stark Marked gene: FANCG as ready
Chromosome Breakage Disorders v0.103 FANCG Zornitza Stark Gene: fancg has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.103 FANCG Zornitza Stark Phenotypes for gene: FANCG were changed from to Fanconi anaemia, complementation group G, MIM# 614082; MONDO:0013565
Chromosome Breakage Disorders v0.102 FANCG Zornitza Stark Publications for gene: FANCG were set to
Chromosome Breakage Disorders v0.101 FANCG Zornitza Stark Mode of inheritance for gene: FANCG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.100 FANCG Zornitza Stark reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: None; Publications: 9806548, 12552564; Phenotypes: Fanconi anaemia, complementation group G, MIM# 614082, MONDO:0013565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.100 FANCF Zornitza Stark Marked gene: FANCF as ready
Chromosome Breakage Disorders v0.100 FANCF Zornitza Stark Gene: fancf has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.100 FANCF Zornitza Stark Phenotypes for gene: FANCF were changed from to Fanconi anaemia, complementation group F 603467; MONDO:0011325
Chromosome Breakage Disorders v0.99 FANCF Zornitza Stark Publications for gene: FANCF were set to
Chromosome Breakage Disorders v0.98 FANCF Zornitza Stark Mode of inheritance for gene: FANCF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.97 FANCF Zornitza Stark reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: None; Publications: 10615118, 31288759; Phenotypes: Fanconi anaemia, complementation group F 603467, MONDO:0011325; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.97 FANCE Zornitza Stark Marked gene: FANCE as ready
Chromosome Breakage Disorders v0.97 FANCE Zornitza Stark Gene: fance has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.97 FANCE Zornitza Stark Phenotypes for gene: FANCE were changed from to Fanconi anaemia, complementation group E, MIM# 600901; MONDO:0010953
Chromosome Breakage Disorders v0.96 FANCE Zornitza Stark Publications for gene: FANCE were set to
Chromosome Breakage Disorders v0.95 FANCE Zornitza Stark Mode of inheritance for gene: FANCE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.94 FANCE Zornitza Stark reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: None; Publications: 11001585, 31586946, 7662964, 9382107, 9147877, 10205272; Phenotypes: Fanconi anaemia, complementation group E, MIM# 600901, MONDO:0010953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.94 FANCD2 Zornitza Stark Marked gene: FANCD2 as ready
Chromosome Breakage Disorders v0.94 FANCD2 Zornitza Stark Gene: fancd2 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.94 FANCD2 Zornitza Stark Phenotypes for gene: FANCD2 were changed from Fanconi anaemia, complementation group D2, MIM# 227646 to Fanconi anaemia, complementation group D2, MIM# 227646; MONDO:0009214
Chromosome Breakage Disorders v0.93 FANCD2 Zornitza Stark Phenotypes for gene: FANCD2 were changed from to Fanconi anaemia, complementation group D2, MIM# 227646
Chromosome Breakage Disorders v0.92 FANCD2 Zornitza Stark Publications for gene: FANCD2 were set to
Chromosome Breakage Disorders v0.91 FANCD2 Zornitza Stark Mode of inheritance for gene: FANCD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.90 FANCD2 Zornitza Stark reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17436244; Phenotypes: Fanconi anaemia, complementation group D2, MIM# 227646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.90 FANCC Zornitza Stark Marked gene: FANCC as ready
Chromosome Breakage Disorders v0.90 FANCC Zornitza Stark Gene: fancc has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.90 FANCC Zornitza Stark Phenotypes for gene: FANCC were changed from to Fanconi anemia, complementation group C, MIM# 227645; MONDO:0009213
Chromosome Breakage Disorders v0.89 FANCC Zornitza Stark Publications for gene: FANCC were set to
Chromosome Breakage Disorders v0.88 FANCC Zornitza Stark Mode of inheritance for gene: FANCC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.87 FANCC Zornitza Stark reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 31044565, 30792206, 28717661; Phenotypes: Fanconi anemia, complementation group C, MIM# 227645, MONDO:0009213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.87 FANCB Zornitza Stark Marked gene: FANCB as ready
Chromosome Breakage Disorders v0.87 FANCB Zornitza Stark Gene: fancb has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.87 FANCB Zornitza Stark Phenotypes for gene: FANCB were changed from Fanconi anaemia, complementation group B, MIM# 300514 to Fanconi anaemia, complementation group B, MIM# 300514; MONDO:0010351
Chromosome Breakage Disorders v0.86 FANCB Zornitza Stark Phenotypes for gene: FANCB were changed from Fanconi anemia, complementation group B, MIM# 300514 to Fanconi anaemia, complementation group B, MIM# 300514
Chromosome Breakage Disorders v0.85 FANCB Zornitza Stark Phenotypes for gene: FANCB were changed from to Fanconi anemia, complementation group B, MIM# 300514
Chromosome Breakage Disorders v0.84 FANCB Zornitza Stark Publications for gene: FANCB were set to
Chromosome Breakage Disorders v0.83 FANCB Zornitza Stark Mode of inheritance for gene: FANCB was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Chromosome Breakage Disorders v0.82 FANCB Zornitza Stark reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 15502827; Phenotypes: Fanconi anemia, complementation group B, MIM# 300514; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Chromosome Breakage Disorders v0.82 FANCA Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association.

Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer.
Chromosome Breakage Disorders v0.82 FANCA Zornitza Stark Marked gene: FANCA as ready
Chromosome Breakage Disorders v0.82 FANCA Zornitza Stark Gene: fanca has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.82 FANCA Zornitza Stark Phenotypes for gene: FANCA were changed from to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215
Chromosome Breakage Disorders v0.81 FANCA Zornitza Stark Publications for gene: FANCA were set to
Chromosome Breakage Disorders v0.80 FANCA Zornitza Stark Mode of inheritance for gene: FANCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.79 FANCA Zornitza Stark reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094191; Phenotypes: Fanconi anaemia, complementation group A, MIM# 227650, MONDO:0009215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.79 ERCC8 Zornitza Stark Phenotypes for gene: ERCC8 were changed from to Cockayne syndrome, type A, MIM# 216400; MONDO:0019569; UV-sensitive syndrome 2, MIM# 614621; MONDO:0013829
Chromosome Breakage Disorders v0.78 ERCC8 Zornitza Stark Publications for gene: ERCC8 were set to
Chromosome Breakage Disorders v0.77 ERCC8 Zornitza Stark Mode of inheritance for gene: ERCC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.76 ERCC8 Zornitza Stark reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 7664335, 19894250; Phenotypes: Cockayne syndrome, type A, MIM# 216400, MONDO:0019569, UV-sensitive syndrome 2, MIM# 614621, MONDO:0013829; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.76 ERCC6 Zornitza Stark Publications for gene: ERCC6 were set to
Chromosome Breakage Disorders v0.75 ERCC6 Zornitza Stark Marked gene: ERCC6 as ready
Chromosome Breakage Disorders v0.75 ERCC6 Zornitza Stark Gene: ercc6 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.75 ERCC6 Zornitza Stark Phenotypes for gene: ERCC6 were changed from to Cerebrooculofacioskeletal syndrome 1, MIM# 214150; MONDO:0008955; Cockayne syndrome, type B, MIM# 133540; MONDO:0019570; De Sanctis-Cacchione syndrome, MIM# 278800; MONDO:0010217; UV-sensitive syndrome 1, MIM# 600630; MONDO:0010909
Chromosome Breakage Disorders v0.74 ERCC6 Zornitza Stark Mode of inheritance for gene: ERCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.73 ERCC6 Zornitza Stark reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrooculofacioskeletal syndrome 1, MIM# 214150, MONDO:0008955, Cockayne syndrome, type B, MIM# 133540, MONDO:0019570, De Sanctis-Cacchione syndrome, MIM# 278800, MONDO:0010217, UV-sensitive syndrome 1, MIM# 600630, MONDO:0010909; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.73 Zornitza Stark removed gene:DHCR7 from the panel
Chromosome Breakage Disorders v0.72 ERCC5 Zornitza Stark Marked gene: ERCC5 as ready
Chromosome Breakage Disorders v0.72 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.72 ERCC5 Zornitza Stark Phenotypes for gene: ERCC5 were changed from to Cerebrooculofacioskeletal syndrome 3, MIM# 616570; MONDO:0014696; Xeroderma pigmentosum, group G, MIM# 278780; MONDO:0010216
Chromosome Breakage Disorders v0.71 ERCC5 Zornitza Stark Publications for gene: ERCC5 were set to
Chromosome Breakage Disorders v0.70 ERCC5 Zornitza Stark Mode of inheritance for gene: ERCC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.69 ERCC5 Zornitza Stark reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 7951246, 9096355, 9096355, 24700531, 33766032, 33219753; Phenotypes: Cerebrooculofacioskeletal syndrome 3, MIM# 616570, MONDO:0014696, Xeroderma pigmentosum, group G, MIM# 278780, MONDO:0010216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.69 ERCC4 Zornitza Stark commented on gene: ERCC4: Excision repair defect resulting in a range of phenotypes.
Chromosome Breakage Disorders v0.69 ERCC4 Zornitza Stark Marked gene: ERCC4 as ready
Chromosome Breakage Disorders v0.69 ERCC4 Zornitza Stark Gene: ercc4 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.69 ERCC4 Zornitza Stark Phenotypes for gene: ERCC4 were changed from to Fanconi anemia, complementation group Q, MIM# 615272; MONDO:0014108; Xeroderma pigmentosum, group F, MIM# 278760; MONDO:0010215; XFE progeroid syndrome, MIM# 610965; MONDO:0012590
Chromosome Breakage Disorders v0.68 ERCC4 Zornitza Stark Publications for gene: ERCC4 were set to
Chromosome Breakage Disorders v0.67 ERCC4 Zornitza Stark Mode of inheritance for gene: ERCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.66 ERCC4 Zornitza Stark edited their review of gene: ERCC4: Changed phenotypes: Fanconi anemia, complementation group Q, MIM# 615272, MONDO:0014108, Xeroderma pigmentosum, group F, MIM# 278760, MONDO:0010215, XFE progeroid syndrome, MIM# 610965, MONDO:0012590
Chromosome Breakage Disorders v0.66 ERCC4 Zornitza Stark edited their review of gene: ERCC4: Changed phenotypes: Fanconi anemia, complementation group Q, MIM# 615272, MONDO:0014108, Xeroderma pigmentosum, group F, MIM# 278760, XFE progeroid syndrome, MIM# 610965, MONDO:0012590
Chromosome Breakage Disorders v0.66 ERCC4 Zornitza Stark edited their review of gene: ERCC4: Changed publications: 23623386, 8797827, 23623389, 17183314, 29105242; Changed phenotypes: Fanconi anemia, complementation group Q, MIM# 615272, MONDO:0014108, Xeroderma pigmentosum, group F, MIM# 278760, XFE progeroid syndrome, MIM# 610965
Chromosome Breakage Disorders v0.66 ERCC4 Zornitza Stark edited their review of gene: ERCC4: Changed phenotypes: Fanconi anemia, complementation group Q, MIM# 615272, MONDO:0014108
Chromosome Breakage Disorders v0.64 ERCC3 Zornitza Stark Marked gene: ERCC3 as ready
Chromosome Breakage Disorders v0.64 ERCC3 Zornitza Stark Gene: ercc3 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.64 ERCC3 Zornitza Stark Phenotypes for gene: ERCC3 were changed from to Trichothiodystrophy 2, photosensitive, MIM# 616390; Xeroderma pigmentosum, group B 61, MIM#0651
Chromosome Breakage Disorders v0.63 ERCC3 Zornitza Stark Publications for gene: ERCC3 were set to
Chromosome Breakage Disorders v0.62 ERCC3 Zornitza Stark Mode of inheritance for gene: ERCC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.61 ERCC3 Zornitza Stark reviewed gene: ERCC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 2167179, 10447254, 16947863, 9012405, 32557569, 27004399; Phenotypes: Trichothiodystrophy 2, photosensitive, MIM# 616390, Xeroderma pigmentosum, group B 61, MIM#0651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.61 ERCC2 Zornitza Stark Marked gene: ERCC2 as ready
Chromosome Breakage Disorders v0.61 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.61 ERCC2 Zornitza Stark Phenotypes for gene: ERCC2 were changed from to Cerebrooculofacioskeletal syndrome 2, MIM# 610756; MONDO:0012553; Trichothiodystrophy 1, photosensitive, MIM# 601675; MONDO:0011125; Xeroderma pigmentosum, group D, MIM# 278730; MONDO:0010212
Chromosome Breakage Disorders v0.60 ERCC2 Zornitza Stark Publications for gene: ERCC2 were set to
Chromosome Breakage Disorders v0.59 ERCC2 Zornitza Stark Mode of inheritance for gene: ERCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.58 ERCC2 Zornitza Stark reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7849702, 9758621, 11443545, 33733458; Phenotypes: Cerebrooculofacioskeletal syndrome 2, MIM# 610756, Trichothiodystrophy 1, photosensitive, MIM# 601675, Xeroderma pigmentosum, group D, MIM# 278730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.58 ERCC1 Zornitza Stark edited their review of gene: ERCC1: Changed publications: 17273966, 23623389, 32557569, 26085086, 33315086
Chromosome Breakage Disorders v0.58 ERCC1 Zornitza Stark Marked gene: ERCC1 as ready
Chromosome Breakage Disorders v0.58 ERCC1 Zornitza Stark Gene: ercc1 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.58 ERCC1 Zornitza Stark Phenotypes for gene: ERCC1 were changed from to Cerebrooculofacioskeletal syndrome 4, MIM# 610758; MONDO:0012554
Chromosome Breakage Disorders v0.57 ERCC1 Zornitza Stark Publications for gene: ERCC1 were set to 17273966; 23623389; 32557569; 26085086
Chromosome Breakage Disorders v0.56 ERCC1 Zornitza Stark Publications for gene: ERCC1 were set to
Chromosome Breakage Disorders v0.55 ERCC1 Zornitza Stark Mode of inheritance for gene: ERCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.54 ERCC1 Zornitza Stark reviewed gene: ERCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273966, 23623389, 32557569, 26085086; Phenotypes: Cerebrooculofacioskeletal syndrome 4, MIM# 610758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.54 DDX11 Zornitza Stark Marked gene: DDX11 as ready
Chromosome Breakage Disorders v0.54 DDX11 Zornitza Stark Gene: ddx11 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.54 DDX11 Zornitza Stark Phenotypes for gene: DDX11 were changed from to Warsaw breakage syndrome, MIM# 613398; MONDO:0013252
Chromosome Breakage Disorders v0.53 DDX11 Zornitza Stark Publications for gene: DDX11 were set to
Chromosome Breakage Disorders v0.52 DDX11 Zornitza Stark Mode of inheritance for gene: DDX11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.51 DDX11 Zornitza Stark edited their review of gene: DDX11: Changed phenotypes: Warsaw breakage syndrome, MIM# 613398, MONDO:0013252
Chromosome Breakage Disorders v0.51 DDX11 Zornitza Stark reviewed gene: DDX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 20137776, 23033317, 30216658; Phenotypes: Warsaw breakage syndrome, MIM# 613398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.51 TOP3A Zornitza Stark edited their review of gene: TOP3A: Changed phenotypes: Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097
Chromosome Breakage Disorders v0.51 TOP3A Zornitza Stark Marked gene: TOP3A as ready
Chromosome Breakage Disorders v0.51 TOP3A Zornitza Stark Gene: top3a has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.51 TOP3A Zornitza Stark Phenotypes for gene: TOP3A were changed from Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 61809 to Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 61809
Chromosome Breakage Disorders v0.51 TOP3A Zornitza Stark Phenotypes for gene: TOP3A were changed from to Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 61809
Chromosome Breakage Disorders v0.50 TOP3A Zornitza Stark Publications for gene: TOP3A were set to
Chromosome Breakage Disorders v0.49 TOP3A Zornitza Stark Mode of inheritance for gene: TOP3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.48 TOP3A Zornitza Stark reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30057030, 33631320; Phenotypes: Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.48 RAD50 Zornitza Stark Phenotypes for gene: RAD50 were changed from Nijmegen breakage syndrome-like disorder, MIM# 613078 to Nijmegen breakage syndrome-like disorder, MIM# 613078; MONDO:0013118
Chromosome Breakage Disorders v0.47 RAD50 Zornitza Stark Publications for gene: RAD50 were set to 19409520; 32212377
Chromosome Breakage Disorders v0.46 RAD50 Zornitza Stark edited their review of gene: RAD50: Added comment: - PMID: 33378670 (2020) - Third case with biallelic RAD50 variants comprising a compound heterozygous frameshift and premature stop codon (c.2165dup; p.Glu723Glyfs∗5 - maternally inherited) and in-frame deletion (c.3109_3111del; p.Glu1035del - de novo). The patient presented with bone marrow failure, immunodeficiency and developmental defects. Collectively, clinical features were reminiscent of impaired DNA repair and/or telomere maintenance. Functional characterisation using patient-derived fibroblasts indicated defects in DNA replication, DNA repair, and DNA end resection; however, ATM-dependent DNA damage response remained intact. Studies in yeast modelling the variant corresponding to p.Glu1035del produced defects in both DNA repair and Tel1ATM-dependent signalling following thermal activation.; Changed publications: 19409520, 32212377, 33378670; Changed phenotypes: Nijmegen breakage syndrome-like disorder, MIM# 613078, MONDO:0013118
Chromosome Breakage Disorders v0.46 NBN Zornitza Stark Marked gene: NBN as ready
Chromosome Breakage Disorders v0.46 NBN Zornitza Stark Gene: nbn has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.46 NBN Zornitza Stark Phenotypes for gene: NBN were changed from to Nijmegen breakage syndrome, MIM# 251260; MONDO:0009623
Chromosome Breakage Disorders v0.45 NBN Zornitza Stark Publications for gene: NBN were set to
Chromosome Breakage Disorders v0.44 NBN Zornitza Stark Mode of inheritance for gene: NBN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.43 NBN Zornitza Stark reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33488600, 33082212; Phenotypes: Nijmegen breakage syndrome, MIM# 251260, MONDO:0009623; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.43 DDB2 Zornitza Stark Marked gene: DDB2 as ready
Chromosome Breakage Disorders v0.43 DDB2 Zornitza Stark Gene: ddb2 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.43 DDB2 Zornitza Stark Phenotypes for gene: DDB2 were changed from to Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740
Chromosome Breakage Disorders v0.42 DDB2 Zornitza Stark Publications for gene: DDB2 were set to
Chromosome Breakage Disorders v0.41 DDB2 Zornitza Stark Mode of inheritance for gene: DDB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.40 DDB2 Zornitza Stark reviewed gene: DDB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33544716, 32457468, 32239545, 32228487; Phenotypes: Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740; Mode of inheritance: None
Chromosome Breakage Disorders v0.40 BRIP1 Zornitza Stark Marked gene: BRIP1 as ready
Chromosome Breakage Disorders v0.40 BRIP1 Zornitza Stark Gene: brip1 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.40 BRIP1 Zornitza Stark Phenotypes for gene: BRIP1 were changed from to Fanconi anemia, complementation group J, MIM# 609054
Chromosome Breakage Disorders v0.39 BRIP1 Zornitza Stark Mode of inheritance for gene: BRIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.38 BRIP1 Zornitza Stark reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group J, MIM# 609054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.38 BRCA2 Zornitza Stark Marked gene: BRCA2 as ready
Chromosome Breakage Disorders v0.38 BRCA2 Zornitza Stark Gene: brca2 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.38 BRCA2 Zornitza Stark Phenotypes for gene: BRCA2 were changed from to Fanconi anemia, complementation group D1, MIM# 605724
Chromosome Breakage Disorders v0.37 BRCA2 Zornitza Stark Mode of inheritance for gene: BRCA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.36 BRCA2 Zornitza Stark reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group D1, MIM# 605724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.36 BLM Zornitza Stark Marked gene: BLM as ready
Chromosome Breakage Disorders v0.36 BLM Zornitza Stark Gene: blm has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.36 BLM Zornitza Stark Phenotypes for gene: BLM were changed from to Bloom syndrome, MIM# 210900
Chromosome Breakage Disorders v0.35 BLM Zornitza Stark Mode of inheritance for gene: BLM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.34 BLM Zornitza Stark reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bloom syndrome, MIM# 210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.34 ATM Zornitza Stark Marked gene: ATM as ready
Chromosome Breakage Disorders v0.34 ATM Zornitza Stark Gene: atm has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.34 ATM Zornitza Stark Phenotypes for gene: ATM were changed from to Ataxia-telangiectasia, MIM# 208900
Chromosome Breakage Disorders v0.33 ATM Zornitza Stark Mode of inheritance for gene: ATM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.32 ATM Zornitza Stark reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia-telangiectasia, MIM# 208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.32 ADAR Zornitza Stark Marked gene: ADAR as ready
Chromosome Breakage Disorders v0.32 ADAR Zornitza Stark Gene: adar has been classified as Red List (Low Evidence).
Chromosome Breakage Disorders v0.32 ADAR Zornitza Stark Phenotypes for gene: ADAR were changed from to Dyschromatosis symmetrica hereditaria, MIM# 127400
Chromosome Breakage Disorders v0.31 ADAR Zornitza Stark Mode of inheritance for gene: ADAR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Chromosome Breakage Disorders v0.30 ADAR Zornitza Stark Classified gene: ADAR as Red List (low evidence)
Chromosome Breakage Disorders v0.30 ADAR Zornitza Stark Gene: adar has been classified as Red List (Low Evidence).
Chromosome Breakage Disorders v0.29 ADAR Zornitza Stark reviewed gene: ADAR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyschromatosis symmetrica hereditaria, MIM# 127400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Chromosome Breakage Disorders v0.29 BRCA1 Zornitza Stark Marked gene: BRCA1 as ready
Chromosome Breakage Disorders v0.29 BRCA1 Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.29 BRCA1 Zornitza Stark Classified gene: BRCA1 as Green List (high evidence)
Chromosome Breakage Disorders v0.29 BRCA1 Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.28 XRCC2 Zornitza Stark Marked gene: XRCC2 as ready
Chromosome Breakage Disorders v0.28 XRCC2 Zornitza Stark Gene: xrcc2 has been classified as Amber List (Moderate Evidence).
Chromosome Breakage Disorders v0.28 XRCC2 Zornitza Stark Classified gene: XRCC2 as Amber List (moderate evidence)
Chromosome Breakage Disorders v0.28 XRCC2 Zornitza Stark Gene: xrcc2 has been classified as Amber List (Moderate Evidence).
Chromosome Breakage Disorders v0.27 XRCC2 Zornitza Stark gene: XRCC2 was added
gene: XRCC2 was added to Chromosome Breakage Disorders. Sources: Expert list
Mode of inheritance for gene: XRCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC2 were set to 27208205; 22232082; 11118202
Phenotypes for gene: XRCC2 were set to Fanconi anemia, complementation group U, MIM# 617247
Review for gene: XRCC2 was set to AMBER
Added comment: Single family reported, functional data.
Sources: Expert list
Chromosome Breakage Disorders v0.26 LIG4 Zornitza Stark Marked gene: LIG4 as ready
Chromosome Breakage Disorders v0.26 LIG4 Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.26 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from to LIG4 syndrome, MIM# 606593
Chromosome Breakage Disorders v0.25 LIG4 Zornitza Stark Publications for gene: LIG4 were set to
Chromosome Breakage Disorders v0.24 LIG4 Zornitza Stark Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.23 LIG4 Zornitza Stark reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11779494, 16088910, 15333585, 20133615; Phenotypes: LIG4 syndrome, MIM# 606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.23 RAD50 Zornitza Stark Marked gene: RAD50 as ready
Chromosome Breakage Disorders v0.23 RAD50 Zornitza Stark Gene: rad50 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.23 RAD50 Zornitza Stark Phenotypes for gene: RAD50 were changed from to Nijmegen breakage syndrome-like disorder, MIM# 613078
Chromosome Breakage Disorders v0.22 RAD50 Zornitza Stark Publications for gene: RAD50 were set to
Chromosome Breakage Disorders v0.21 RAD50 Zornitza Stark Mode of inheritance for gene: RAD50 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.20 RAD50 Zornitza Stark reviewed gene: RAD50: Rating: GREEN; Mode of pathogenicity: None; Publications: 19409520, 32212377; Phenotypes: Nijmegen breakage syndrome-like disorder, MIM# 613078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.20 UBE2T Zornitza Stark Tag SV/CNV tag was added to gene: UBE2T.
Chromosome Breakage Disorders v0.20 UBE2T Zornitza Stark Classified gene: UBE2T as Green List (high evidence)
Chromosome Breakage Disorders v0.20 UBE2T Zornitza Stark Gene: ube2t has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.19 UBE2T Zornitza Stark edited their review of gene: UBE2T: Added comment: Additional family reported, upgrade to Green.; Changed rating: GREEN; Changed publications: 26046368, 32646888
Chromosome Breakage Disorders v0.19 FANCM Zornitza Stark Tag refuted tag was added to gene: FANCM.
Chromosome Breakage Disorders v0.19 FANCM Zornitza Stark Marked gene: FANCM as ready
Chromosome Breakage Disorders v0.19 FANCM Zornitza Stark Gene: fancm has been classified as Red List (Low Evidence).
Chromosome Breakage Disorders v0.19 FANCM Zornitza Stark Phenotypes for gene: FANCM were changed from to Fanconi anaemia
Chromosome Breakage Disorders v0.18 FANCM Zornitza Stark Publications for gene: FANCM were set to
Chromosome Breakage Disorders v0.17 FANCM Zornitza Stark Mode of inheritance for gene: FANCM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.16 FANCM Zornitza Stark Classified gene: FANCM as Red List (low evidence)
Chromosome Breakage Disorders v0.16 FANCM Zornitza Stark Gene: fancm has been classified as Red List (Low Evidence).
Chromosome Breakage Disorders v0.15 FANCM Zornitza Stark reviewed gene: FANCM: Rating: RED; Mode of pathogenicity: None; Publications: 28837162; Phenotypes: Fanconi anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.15 BRCA1 Zornitza Stark gene: BRCA1 was added
gene: BRCA1 was added to Chromosome Breakage Disorders. Sources: Expert list
Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRCA1 were set to 23269703; 29133208; 25472942; 29712865
Phenotypes for gene: BRCA1 were set to Fanconi anemia, complementation group S, MIM# 617883
Review for gene: BRCA1 was set to GREEN
Added comment: At least 5 unrelated families with bi-allelic variants reported and FA phenotype.
Sources: Expert list
Chromosome Breakage Disorders v0.14 RFWD3 Zornitza Stark Marked gene: RFWD3 as ready
Chromosome Breakage Disorders v0.14 RFWD3 Zornitza Stark Gene: rfwd3 has been classified as Red List (Low Evidence).
Chromosome Breakage Disorders v0.14 RFWD3 Zornitza Stark gene: RFWD3 was added
gene: RFWD3 was added to Chromosome Breakage Disorders. Sources: Expert list
Mode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFWD3 were set to 28691929
Phenotypes for gene: RFWD3 were set to Fanconi anemia, complementation group W, MIM# 617784
Review for gene: RFWD3 was set to RED
Added comment: Single family reported, functional data.
Sources: Expert list
Chromosome Breakage Disorders v0.13 MAD2L2 Zornitza Stark Marked gene: MAD2L2 as ready
Chromosome Breakage Disorders v0.13 MAD2L2 Zornitza Stark Gene: mad2l2 has been classified as Red List (Low Evidence).
Chromosome Breakage Disorders v0.13 MAD2L2 Zornitza Stark gene: MAD2L2 was added
gene: MAD2L2 was added to Chromosome Breakage Disorders. Sources: Expert list
Mode of inheritance for gene: MAD2L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAD2L2 were set to 27500492
Phenotypes for gene: MAD2L2 were set to Fanconi anemia, complementation group V, MIM# 617243
Review for gene: MAD2L2 was set to RED
Added comment: Single family reported.
Sources: Expert list
Chromosome Breakage Disorders v0.12 UBE2T Zornitza Stark Marked gene: UBE2T as ready
Chromosome Breakage Disorders v0.12 UBE2T Zornitza Stark Gene: ube2t has been classified as Amber List (Moderate Evidence).
Chromosome Breakage Disorders v0.12 UBE2T Zornitza Stark Phenotypes for gene: UBE2T were changed from to Fanconi anemia, complementation group T, MIM# 616435
Chromosome Breakage Disorders v0.11 UBE2T Zornitza Stark Publications for gene: UBE2T were set to
Chromosome Breakage Disorders v0.10 UBE2T Zornitza Stark Mode of inheritance for gene: UBE2T was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.9 UBE2T Zornitza Stark Classified gene: UBE2T as Amber List (moderate evidence)
Chromosome Breakage Disorders v0.9 UBE2T Zornitza Stark Gene: ube2t has been classified as Amber List (Moderate Evidence).
Chromosome Breakage Disorders v0.8 UBE2T Zornitza Stark reviewed gene: UBE2T: Rating: AMBER; Mode of pathogenicity: None; Publications: 26046368; Phenotypes: Fanconi anemia, complementation group T, MIM# 616435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.8 Zornitza Stark Panel name changed from Chromosome breakage disorders to Chromosome Breakage Disorders
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Chromosome Breakage Disorders v0.7 Zornitza Stark Panel name changed from Chromosome breakage disorders_VCGS to Chromosome breakage disorders
Panel types changed to Victorian Clinical Genetics Services
Chromosome Breakage Disorders v0.6 Zornitza Stark Panel status changed from deleted to public
Chromosome Breakage Disorders v0.2 XRCC4 Zornitza Stark gene: XRCC4 was added
gene: XRCC4 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: XRCC4 was set to Unknown
Chromosome Breakage Disorders v0.2 XPC Zornitza Stark gene: XPC was added
gene: XPC was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: XPC was set to Unknown
Chromosome Breakage Disorders v0.2 XPA Zornitza Stark gene: XPA was added
gene: XPA was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: XPA was set to Unknown
Chromosome Breakage Disorders v0.2 UBE2T Zornitza Stark gene: UBE2T was added
gene: UBE2T was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UBE2T was set to Unknown
Chromosome Breakage Disorders v0.2 TYR Zornitza Stark gene: TYR was added
gene: TYR was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TYR was set to Unknown
Chromosome Breakage Disorders v0.2 TOP3A Zornitza Stark gene: TOP3A was added
gene: TOP3A was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TOP3A was set to Unknown
Chromosome Breakage Disorders v0.2 SLX4 Zornitza Stark gene: SLX4 was added
gene: SLX4 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLX4 was set to Unknown
Chromosome Breakage Disorders v0.2 RMI2 Zornitza Stark gene: RMI2 was added
gene: RMI2 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RMI2 was set to Unknown
Chromosome Breakage Disorders v0.2 RECQL4 Zornitza Stark gene: RECQL4 was added
gene: RECQL4 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RECQL4 was set to Unknown
Chromosome Breakage Disorders v0.2 RAD51C Zornitza Stark gene: RAD51C was added
gene: RAD51C was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAD51C was set to Unknown
Chromosome Breakage Disorders v0.2 RAD51 Zornitza Stark gene: RAD51 was added
gene: RAD51 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAD51 was set to Unknown
Chromosome Breakage Disorders v0.2 RAD50 Zornitza Stark gene: RAD50 was added
gene: RAD50 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAD50 was set to Unknown
Chromosome Breakage Disorders v0.2 POLH Zornitza Stark gene: POLH was added
gene: POLH was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POLH was set to Unknown
Chromosome Breakage Disorders v0.2 PALB2 Zornitza Stark gene: PALB2 was added
gene: PALB2 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PALB2 was set to Unknown
Chromosome Breakage Disorders v0.2 NHEJ1 Zornitza Stark gene: NHEJ1 was added
gene: NHEJ1 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NHEJ1 was set to Unknown
Chromosome Breakage Disorders v0.2 NBN Zornitza Stark gene: NBN was added
gene: NBN was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NBN was set to Unknown
Chromosome Breakage Disorders v0.2 MRE11 Zornitza Stark gene: MRE11 was added
gene: MRE11 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MRE11 was set to Unknown
Chromosome Breakage Disorders v0.2 MPLKIP Zornitza Stark gene: MPLKIP was added
gene: MPLKIP was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MPLKIP was set to Unknown
Chromosome Breakage Disorders v0.2 LIG4 Zornitza Stark gene: LIG4 was added
gene: LIG4 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LIG4 was set to Unknown
Chromosome Breakage Disorders v0.2 GTF2H5 Zornitza Stark gene: GTF2H5 was added
gene: GTF2H5 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GTF2H5 was set to Unknown
Chromosome Breakage Disorders v0.2 GTF2E2 Zornitza Stark gene: GTF2E2 was added
gene: GTF2E2 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GTF2E2 was set to Unknown
Chromosome Breakage Disorders v0.2 FANCM Zornitza Stark gene: FANCM was added
gene: FANCM was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCM was set to Unknown
Chromosome Breakage Disorders v0.2 FANCL Zornitza Stark gene: FANCL was added
gene: FANCL was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCL was set to Unknown
Chromosome Breakage Disorders v0.2 FANCI Zornitza Stark gene: FANCI was added
gene: FANCI was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCI was set to Unknown
Chromosome Breakage Disorders v0.2 FANCG Zornitza Stark gene: FANCG was added
gene: FANCG was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCG was set to Unknown
Chromosome Breakage Disorders v0.2 FANCF Zornitza Stark gene: FANCF was added
gene: FANCF was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCF was set to Unknown
Chromosome Breakage Disorders v0.2 FANCE Zornitza Stark gene: FANCE was added
gene: FANCE was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCE was set to Unknown
Chromosome Breakage Disorders v0.2 FANCD2 Zornitza Stark gene: FANCD2 was added
gene: FANCD2 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCD2 was set to Unknown
Chromosome Breakage Disorders v0.2 FANCC Zornitza Stark gene: FANCC was added
gene: FANCC was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCC was set to Unknown
Chromosome Breakage Disorders v0.2 FANCB Zornitza Stark gene: FANCB was added
gene: FANCB was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCB was set to Unknown
Chromosome Breakage Disorders v0.2 FANCA Zornitza Stark gene: FANCA was added
gene: FANCA was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCA was set to Unknown
Chromosome Breakage Disorders v0.2 ERCC8 Zornitza Stark gene: ERCC8 was added
gene: ERCC8 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC8 was set to Unknown
Chromosome Breakage Disorders v0.2 ERCC6 Zornitza Stark gene: ERCC6 was added
gene: ERCC6 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC6 was set to Unknown
Chromosome Breakage Disorders v0.2 ERCC5 Zornitza Stark gene: ERCC5 was added
gene: ERCC5 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC5 was set to Unknown
Chromosome Breakage Disorders v0.2 ERCC4 Zornitza Stark gene: ERCC4 was added
gene: ERCC4 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC4 was set to Unknown
Chromosome Breakage Disorders v0.2 ERCC3 Zornitza Stark gene: ERCC3 was added
gene: ERCC3 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC3 was set to Unknown
Chromosome Breakage Disorders v0.2 ERCC2 Zornitza Stark gene: ERCC2 was added
gene: ERCC2 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC2 was set to Unknown
Chromosome Breakage Disorders v0.2 ERCC1 Zornitza Stark gene: ERCC1 was added
gene: ERCC1 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC1 was set to Unknown
Chromosome Breakage Disorders v0.2 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DHCR7 was set to Unknown
Chromosome Breakage Disorders v0.2 DDX11 Zornitza Stark gene: DDX11 was added
gene: DDX11 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DDX11 was set to Unknown
Chromosome Breakage Disorders v0.2 DDB2 Zornitza Stark gene: DDB2 was added
gene: DDB2 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DDB2 was set to Unknown
Chromosome Breakage Disorders v0.2 BRIP1 Zornitza Stark gene: BRIP1 was added
gene: BRIP1 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BRIP1 was set to Unknown
Chromosome Breakage Disorders v0.2 BRCA2 Zornitza Stark gene: BRCA2 was added
gene: BRCA2 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BRCA2 was set to Unknown
Chromosome Breakage Disorders v0.2 BLM Zornitza Stark gene: BLM was added
gene: BLM was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BLM was set to Unknown
Chromosome Breakage Disorders v0.2 ATM Zornitza Stark gene: ATM was added
gene: ATM was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATM was set to Unknown
Chromosome Breakage Disorders v0.0 Zornitza Stark Panel deleted
Chromosome Breakage Disorders v0.0 ADAR Zornitza Stark gene: ADAR was added
gene: ADAR was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ADAR was set to Unknown
Chromosome Breakage Disorders v0.0 Zornitza Stark Added panel Chromosome breakage disorders_VCGS