Skeletal dysplasia
Gene: GJA1EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 25 panels
4 reviews
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, 11:44 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
Eleanor Williams (Genomics England Curator)
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.
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
-
- NHS GMS
- Expert Review Green
- Expert list
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- 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
- Complete
- Panels with this gene
-
- Structural eye disease
- Mosaic skin disorders - deep sequencing
- Monogenic hearing loss
- Adult onset hereditary spastic paraplegia
- Skeletal dysplasia
- Fetal anomalies
- Glaucoma (developmental)
- White matter disorders and cerebral calcification - narrow panel
- Primary lymphoedema
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Palmoplantar keratodermas
- Rare genetic inflammatory skin disorders
- Limb disorders
- Familial non syndromic congenital heart disease
- DDG2P
- Adult onset leukodystrophy
- Inherited white matter disorders
- Corneal abnormalities
- Clefting
- Pigmentary skin disorders
- Bilateral congenital or childhood onset cataracts
- Palmoplantar keratoderma and erythrokeratodermas
- Ichthyosis and erythrokeratoderma
- Familial cicatricial alopecia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Set Phenotypes
Eleanor Williams (Genomics England Curator)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
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to GJA1. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for GJA1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Upload gene information
Sarah Leigh (Genomics England Curator)GJA1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Created
Sarah Leigh (Genomics England Curator)GJA1 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)GJA1 was added to Unexplained skeletal dysplasiapanel. Sources: