DDG2P
Gene: GJA1
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).Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 6 Oct 2023, 6:01 p.m.
Panel Version: 3.43
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Publications
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.Created: 28 Jan 2019, 2:29 p.m.
Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.Created: 19 Nov 2018, 1:49 p.m.
Multiple MOPs in DD-G2P download: all missense/in frame, loss of function, uncertain. Multiple MOIs in DD-G2P download: monoallelic and biallelic. Multiple ratings in DD-G2P download: Rated confirmed for HALLERMANN-STREIFF SYNDROME 234100, HYPOPLASTIC LEFT HEART SYNDROME 241550, AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA 257850 and AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA 164200. Rated possible for SYNDACTYLY TYPE 3 186100.Created: 19 Nov 2018, 11:29 a.m.
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
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
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
Tag watchlist was removed from gene: GJA1.
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
Rebecca Foulger: Multiple MOPs in DD-G2P downlo
Gene: gja1 has been classified as Green List (High Evidence).
Tag watchlist tag was added to gene: GJA1.
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
Added phenotypes AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA 257850 for gene: GJA1 Publications for gene GJA1 were changed from 2157843 to 16816024; 12457340
Added phenotypes SYNDACTYLY TYPE 3 186100 for gene: GJA1 Publications for gene GJA1 were changed from 11470490 to 2157843
Added phenotypes HYPOPLASTIC LEFT HEART SYNDROME 241550 for gene: GJA1 Publications for gene GJA1 were changed from 14981729 to 11470490
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