GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: GJA1EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 25 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
Other sclerosing bone disorders gp of SD - at least 3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- 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
- OMIM
- 121014
- Clinvar variants
- Variants in GJA1
- Penetrance
- None
- Panels with this gene
-
- Palmoplantar keratodermas
- Monogenic hearing loss
- Familial non syndromic congenital heart disease
- Primary lymphoedema
- Clefting
- Limb disorders
- Structural eye disease
- Inherited white matter disorders
- Corneal abnormalities
- Skeletal dysplasia
- Adult onset leukodystrophy
- Palmoplantar keratoderma and erythrokeratodermas
- Familial cicatricial alopecia
- Ichthyosis and erythrokeratoderma
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Pigmentary skin disorders
- Mosaic skin disorders - deep sequencing
- Fetal anomalies
- DDG2P
- Adult onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Glaucoma (developmental)
- Childhood onset hereditary spastic paraplegia
- Rare genetic inflammatory skin disorders
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: GJA1 was added gene: GJA1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GJA1 were set to 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