Limb disorders
Gene: GJA1EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 25 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotypes in OMIM and G2P. Numerous variants reportedCreated: 28 Jul 2016, 1:19 p.m.
Ana Beleza (Bristol Regional Genetics Service)
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert Review Green
- London South East RGC GSTT
- Viapath
- Phenotypes
-
- Craniometaphyseal dysplasia, autosomal recessive, OMIM:218400
- Oculodentodigital dysplasia, OMIM:164200
- Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
- Syndactyly, type III, OMIM:186100
- OMIM
- 121014
- Clinvar variants
- Variants in GJA1
- Penetrance
- None
- Panels with this gene
-
- Clefting
- Glaucoma (developmental)
- Fetal anomalies
- Rare genetic inflammatory skin disorders
- Primary lymphoedema
- Adult onset hereditary spastic paraplegia
- Skeletal dysplasia
- Palmoplantar keratodermas
- Limb disorders
- Bilateral congenital or childhood onset cataracts
- White matter disorders and cerebral calcification - narrow panel
- Familial non syndromic congenital heart disease
- Adult onset leukodystrophy
- Intellectual disability
- DDG2P
- Monogenic hearing loss
- Inherited white matter disorders
- Corneal abnormalities
- Mosaic skin disorders - deep sequencing
- Pigmentary skin disorders
- Childhood onset hereditary spastic paraplegia
- Palmoplantar keratoderma and erythrokeratodermas
- Familial cicatricial alopecia
- Structural eye disease
- Ichthyosis and erythrokeratoderma
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ana Beleza: Tier 1
Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)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
Added New Source
Ellen McDonagh (Genomics England Curator)London South East RGC GSTT was added to GJA1. Panel: Limb disorders
Added New Source
Ellen McDonagh (Genomics England Curator)GJA1 was added to Limb disorders panel. Sources: Viapath
Created
Ellen McDonagh (Genomics England Curator)GJA1 was created by Ellen McDonagh