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| DDG2P v3.44 | GJA1 | Achchuthan Shanmugasundram Phenotypes for gene: GJA1 were changed from HALLERMANN-STREIFF SYNDROME, OMIM:234100; SYNDACTYLY TYPE 3, OMIM:186100; AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200; HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550; AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850 to HALLERMANN-STREIFF SYNDROME, OMIM:234100; SYNDACTYLY TYPE 3, OMIM:186100; AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200; HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550; AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.44 | GJA1 | Achchuthan Shanmugasundram Phenotypes for gene: GJA1 were changed from HALLERMANN-STREIFF SYNDROME, OMIM:234100; SYNDACTYLY TYPE 3, OMIM:186100; AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200; HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550; AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850 to HALLERMANN-STREIFF SYNDROME, OMIM:234100; SYNDACTYLY TYPE 3, OMIM:186100; AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200; HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550; AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.44 | GJA1 | Achchuthan Shanmugasundram Phenotypes for gene: GJA1 were changed from HALLERMANN-STREIFF SYNDROME 234100; HYPOPLASTIC LEFT HEART SYNDROME 241550; AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA 164200; AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA 257850; SYNDACTYLY TYPE 3 186100 to HALLERMANN-STREIFF SYNDROME, OMIM:234100; SYNDACTYLY TYPE 3, OMIM:186100; AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200; HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550; AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.43 | GJA1 | Achchuthan Shanmugasundram Tag watchlist was removed from gene: GJA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.43 | GJA1 |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:11470490). The DDG2P confidence category for the disease AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 12457340;16816024). The DDG2P confidence category for the disease AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and uncertain (PMIDs: 4209752;15108203;7815444;17256797;21670345;15551259;12457340;2309863;16709485). The DDG2P confidence category for the disease SYNDACTYLY TYPE 3, OMIM:186100 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:2157843). The DDG2P confidence category for the disease HALLERMANN-STREIFF SYNDROME, OMIM:234100 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 14974090;14981729).; to: The DDG2P confidence category for the disease HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:11470490). The DDG2P confidence category for the disease AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 12457340;16816024). The DDG2P confidence category for the disease AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and uncertain (PMIDs: 4209752;15108203;7815444;17256797;21670345;15551259;12457340;2309863;16709485). The DDG2P confidence category for the disease SYNDACTYLY TYPE 3, OMIM:186100 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:2157843). The DDG2P confidence category for the disease HALLERMANN-STREIFF SYNDROME, OMIM:234100 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 14974090;14981729). |
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| DDG2P v3.12 | GJA1 | Achchuthan Shanmugasundram reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15108203, 2157843, 16816024, 14974090, 4209752, 2309863, 12457340, 15551259, 7815444, 21670345, 16709485, 17256797, 14981729, 11470490; Phenotypes: HALLERMANN-STREIFF SYNDROME, OMIM:234100, SYNDACTYLY TYPE 3, OMIM:186100, AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200, HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550, AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GJA1 | Achchuthan Shanmugasundram Publications for gene: GJA1 were updated from 12457340; 4209752; 7815444; 15108203; 2309863; 16709485; 15551259; 17256797; 21670345 to 15108203; 2157843; 16816024; 14974090; 4209752; 2309863; 12457340; 15551259; 7815444; 21670345; 16709485; 17256797; 14981729; 11470490 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.72 | GJA1 | Rebecca Foulger Classified gene: GJA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.72 | GJA1 | Rebecca Foulger Gene: gja1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | GJA1 | Rebecca Foulger edited their review of gene: GJA1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA; AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA; HALLERMANN-STREIFF SYNDROME; HYPOPLASTIC LEFT HEART SYNDROME. Confirmed disorders have mix of monoallelic and biallelic inheritance, so 'both monoallelic and biallelic' MOI kept.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | GJA1 | Rebecca Foulger Tag watchlist tag was added to gene: GJA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | GJA1 | Rebecca Foulger commented on gene: GJA1: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GJA1 | Rebecca Foulger reviewed gene: GJA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GJA1 |
Rebecca Foulger Added phenotypes AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA 164200 for gene: GJA1 Publications for gene GJA1 were changed from 16816024; 12457340 to 12457340; 4209752; 7815444; 15108203; 2309863; 16709485; 15551259; 17256797; 21670345 |
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| DDG2P v0.1 | GJA1 |
Rebecca Foulger Added phenotypes AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA 257850 for gene: GJA1 Publications for gene GJA1 were changed from 2157843 to 16816024; 12457340 |
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| DDG2P v0.1 | GJA1 |
Rebecca Foulger Added phenotypes SYNDACTYLY TYPE 3 186100 for gene: GJA1 Publications for gene GJA1 were changed from 11470490 to 2157843 |
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| DDG2P v0.1 | GJA1 |
Rebecca Foulger Added phenotypes HYPOPLASTIC LEFT HEART SYNDROME 241550 for gene: GJA1 Publications for gene GJA1 were changed from 14981729 to 11470490 |
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| DDG2P v0.1 | GJA1 |
Rebecca Foulger gene: GJA1 was added gene: GJA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GJA1 were set to 14981729 Phenotypes for gene: GJA1 were set to HALLERMANN-STREIFF SYNDROME 234100 |
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