This Panel is marked as Retired
Meiges disease
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
1 review
Pia Ostergaard (St George's)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
oculodentodigital syndrome with primary lymphoedema
Publications
- [PMID: 23550541]
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- oculodentodigital syndrome with primary lymphoedem
- Oculodentodigital dysplasia 164200
- OMIM
- 121014
- Clinvar variants
- Variants in GJA1
- Penetrance
- Complete
- Publications
-
- PMID: 23550541
- 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
29 Jul 2016, Gel status: 4
panel promoted to version 1
Richard Scott (Genomics England Curator)Ready for version 1
29 Jul 2016, Gel status: 4
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
29 Jul 2016, Gel status: 4
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
5 Nov 2015, Gel status: 0
Created
Pia Ostergaard (St George's)GJA1 was created by posterga
5 Nov 2015, Gel status: 0
Added New Source
Pia Ostergaard (St George's)GJA1 was added to Meiges diseasepanel. Sources: Expert list