Limb disorders
Gene: GJA1Comment when marking as ready: Associated with phenotypes in OMIM and G2P. Numerous variants reportedCreated: 28 Jul 2016, 1:19 p.m.
Tier 1Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Craniometaphyseal dysplasia, autosomal recessive 218400; Erythrokeratodermia variabilis et progressiva 133200; Hypoplastic left heart syndrome 1 241550; Oculodentodigital dysplasia 164200 ; Oculodentodigital dysplasia, autosomal recessive 257850; Palmoplantar keratoderma with congenital alopecia 104100; Syndactyly, type III 186100
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: GJA1 were changed from Craniometaphyseal dysplasia, autosomal recessive 218400; Erythrokeratodermia variabilis et progressiva 133200; Hypoplastic left heart syndrome 1 241550; Oculodentodigital dysplasia 164200; Oculodentodigital dysplasia, autosomal recessive 257850; Palmoplantar keratoderma with congenital alopecia 104100; Syndactyly, type III 186100 to Craniometaphyseal dysplasia, autosomal recessive, OMIM:218400; Oculodentodigital dysplasia, OMIM:164200; Oculodentodigital dysplasia, autosomal recessive, OMIM:257850; Syndactyly, type III, OMIM:186100
Ana Beleza: Tier 1
Expert Review Green was added to GJA1. Panel: Limb disorders UKGTN was added to GJA1. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to GJA1. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to GJA1. Panel: Limb disorders Expert list was added to GJA1. Panel: Limb disorders Model of inheritance for gene GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
London South East RGC GSTT was added to GJA1. Panel: Limb disorders
GJA1 was added to Limb disorders panel. Sources: Viapath
GJA1 was created by Ellen McDonagh