Inherited white matter disorders
Gene: GJA1EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 25 panels
3 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: Also in eligibility statement as relevant prior testing.Created: 6 Oct 2016, 9:06 a.m.
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM, not in G2P / DD. Numerous variants described and present in Leukodystrophies: A Historical Perspective and Adapted Definition (PMID 27564080).Created: 1 Sep 2016, 8:58 a.m.
Comment on phenotypes: Also associated with Atrioventricular septal defect 3 600309 AD; Craniometaphyseal dysplasia, autosomal recessive 218400; Erythrokeratodermia variabilis et progressive 133200 AR, AD; Hypoplastic left heart syndrome 1 241550 AR; Palmoplantar keratoderma with congenital alopecia 104100 AD; Syndactyly, type III 186100Created: 1 Sep 2016, 8:57 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Oculodentodigital dysplasia (ODDD). Confirmed DD gene for AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA and AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA. Multiple cases reported on OMIM for Oculodentodigital dysplasia, with different variants and different studies. Green gene in the Meiges panel version 1.16 and unexplained skeletal dysplasia panel version 1. Is not on the Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel submitted to the UKGTN by Leeds Genetics Laboratory.Created: 26 Aug 2016, 10:26 a.m.
Relevant phenotypes and mode of inheritance sourced from OMIM.Created: 8 Jan 2016, 10:44 a.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Other
- Eligibility statement prior genetic testing
- Phenotypes
-
- Oculodentodigital dysplasia, OMIM:164200
- Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
- OMIM
- 121014
- Clinvar variants
- Variants in GJA1
- Penetrance
- Complete
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Palmoplantar keratodermas
- Rare genetic inflammatory skin disorders
- Familial non syndromic congenital heart disease
- Limb disorders
- DDG2P
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- Corneal abnormalities
- Pigmentary skin disorders
- Clefting
- Bilateral congenital or childhood onset cataracts
- Palmoplantar keratoderma and erythrokeratodermas
- Ichthyosis and erythrokeratoderma
- Familial cicatricial alopecia
- Structural eye disease
- Mosaic skin disorders - deep sequencing
- Monogenic hearing loss
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Glaucoma (developmental)
- Skeletal dysplasia
- Primary lymphoedema
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GJA1 were changed from Oculodentodigital dysplasia (AD) 164200; Oculodentodigital dysplasia, autosomal recessive 257850 to Oculodentodigital dysplasia, OMIM:164200; Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (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 Oculodentodigital dysplasia (AD) 164200; Oculodentodigital dysplasia, autosomal recessive 257850
Upload gene information
Sarah Leigh (Genomics England Curator)GJA1 was added to Inherited white matter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for GJA1 were set to Oculodentodigital dysplasia (AD) 164200; Oculodentodigital dysplasia, autosomal recessive 257850
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Created
Ellen McDonagh (Genomics England Curator)GJA1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)GJA1 was added to Inherited white matter disorderspanel. Sources: Eligibility statement prior genetic testing,Other