Palmoplantar keratodermas
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
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: GJA1; Suggested initial gene rating: Green; Evidence for inclusion: PMID:25398053; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 28 Jan 2019, 10:47 a.m.
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Erythrokeratodermia variabilis et progressiva 3, OMIM:617525
- Palmoplantar keratoderma with congenital alopecia, OMIM:104100
- Oculodentodigital dysplasia, OMIM:164200
- OMIM
- 121014
- Clinvar variants
- Variants in GJA1
- Penetrance
- None
- Publications
- Panels with this gene
-
- DDG2P
- Glaucoma (developmental)
- Rare genetic inflammatory skin disorders
- Leukodystrophy, adult onset
- White matter disorders and cerebral calcification - childhood onset
- Intellectual disability
- Fetal anomalies
- Palmoplantar keratodermas
- Ichthyosis and erythrokeratoderma
- Skeletal dysplasia
- Hereditary spastic paraplegia, adult onset
- Pigmentary skin disorders
- Clefting
- Bilateral congenital or childhood onset cataracts
- Primary lymphoedema
- Limb disorders
- Inherited white matter disorders
- Corneal abnormalities
- Familial non syndromic congenital heart disease
- Palmoplantar keratoderma and erythrokeratodermas
- Mosaic skin disorders - Deep sequencing
- Familial cicatricial alopecia
- Hereditary spastic paraplegia, childhood onset
- Monogenic hearing loss
- Structural eye disease
History Filter Activity
31 Aug 2021, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GJA1 were changed from Palmoplantar keratoderma to Erythrokeratodermia variabilis et progressiva 3, OMIM:617525; Palmoplantar keratoderma with congenital alopecia, OMIM:104100; Oculodentodigital dysplasia, OMIM:164200
18 Feb 2019, Gel status: 4
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to GJA1.
28 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: GJA1 was added gene: GJA1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GJA1 were set to 25398053 Phenotypes for gene: GJA1 were set to Palmoplantar keratoderma