Skeletal dysplasia
Gene: GJA1
Other sclerosing bone disorders gp of SD - at least 3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 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
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: GJA1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment 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 Oculodentodigital dysplasia 164200; Syndactyly, type III 186100; Erythrokeratodermia variabilis et progressiva 133200; Palmoplantar keratoderma with congenital alopecia 104100; Oculodentodigital dysplasia, autosomal recessive 257850; Craniometaphyseal dysplasia, autosomal recessive 218400; Hypoplastic left heart syndrome 1 241550 to Craniometaphyseal dysplasia, autosomal recessive, OMIM:218400; Oculodentodigital dysplasia, OMIM:164200; Oculodentodigital dysplasia, autosomal recessive, OMIM:257850; Syndactyly, type III, OMIM:186100
Added phenotypes Oculodentodigital dysplasia 164200; Syndactyly, type III 186100; Erythrokeratodermia variabilis et progressiva 133200; Palmoplantar keratoderma with congenital alopecia 104100; Oculodentodigital dysplasia, autosomal recessive 257850; Craniometaphyseal dysplasia, autosomal recessive 218400; Hypoplastic left heart syndrome 1 241550 for gene: GJA1
Source NHS GMS was added to GJA1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for GJA1 were set to 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
Mode of inheritance for GJA1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
GJA1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
GJA1 was created by sleigh
GJA1 was added to Unexplained skeletal dysplasiapanel. Sources: