This Panel is marked as Deleted
Leukodystrophy Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 121014
- Clinvar variants
- Variants in GJA1
- Penetrance
- None
- Panels with this gene
-
- Bilateral congenital or childhood onset cataracts
- Adult onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Skeletal dysplasia
- Glaucoma (developmental)
- Limb disorders
- Structural eye disease
- Rare genetic inflammatory skin disorders
- Fetal anomalies
- Palmoplantar keratodermas
- Clefting
- Pigmentary skin disorders
- Familial non syndromic congenital heart disease
- Primary lymphoedema
- Inherited white matter disorders
- Corneal abnormalities
- Mosaic skin disorders - deep sequencing
- Adult onset leukodystrophy
- Palmoplantar keratoderma and erythrokeratodermas
- Intellectual disability
- Monogenic hearing loss
- Familial cicatricial alopecia
- Childhood onset hereditary spastic paraplegia
- Ichthyosis and erythrokeratoderma
- DDG2P
History Filter Activity
21 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)GJA1 was added to Leukodystrophy Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
21 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)GJA1 was created by Sarah Leigh