White matter disorders and cerebral calcification - narrow panel
Gene: GJA1EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 25 panels
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Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Oculodentodigital dysplasia, OMIM:164200
- Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
- OMIM
- 121014
- Clinvar variants
- Variants in GJA1
- Penetrance
- None
- 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, autosomal recessive 257850; Oculodentodigital dysplasia (AD) 164200 to Oculodentodigital dysplasia, OMIM:164200; Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: GJA1 was added gene: GJA1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: 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, autosomal recessive 257850; Oculodentodigital dysplasia (AD) 164200