This Panel is marked as Internal
Isomerism and laterality disorders
Gene: GJA1
GJA1 (gap junction protein alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 25 panels
EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 25 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Atrioventricular septal defect 3,600309
- OMIM
- 121014
- Clinvar variants
- Variants in GJA1
- Penetrance
- Complete
- Panels with this gene
-
- Familial non syndromic congenital heart disease
- DDG2P
- Adult onset leukodystrophy
- Inherited white matter disorders
- Fetal anomalies
- Corneal abnormalities
- Mosaic skin disorders - deep sequencing
- Monogenic hearing loss
- Palmoplantar keratoderma and erythrokeratodermas
- Limb disorders
- Childhood onset hereditary spastic paraplegia
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
- Familial cicatricial alopecia
- Ichthyosis and erythrokeratoderma
- Pigmentary skin disorders
- Palmoplantar keratodermas
- Skeletal dysplasia
- Rare genetic inflammatory skin disorders
- Glaucoma (developmental)
- Structural eye disease
- White matter disorders and cerebral calcification - narrow panel
- Clefting
- Primary lymphoedema
- Adult onset hereditary spastic paraplegia
History Filter Activity
16 May 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)GJA1 was added to Isomerism and laterality disorderspanel. Sources: Radboud University Medical Center, Nijmegen
16 May 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)GJA1 was created by ellenmcdonagh