Pigmentary skin disorders
Gene: GJA1EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 25 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The mode of inheritance of this gene has been updated to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 2:44 p.m. | Last Modified: 31 Jan 2023, 2:44 p.m.
Panel Version: 2.3
Comment on mode of inheritance: MOI should be changed from 'both mono- and biallelic' to 'monoallelic' only at the next GMS panel update.
Monoallelic variants can cause EKVP3 (MIM: 617525) which manifests in hyperpigmentation. Erythematous palms and soles have also been described in cases of GJA1-related palmoplantar keratoderma (MIM: 104100), also associated with heterozygous variants. Biallelic variants are not pertinent to this panel.Created: 31 Aug 2021, 2:23 p.m. | Last Modified: 31 Aug 2021, 2:23 p.m.
Panel Version: 1.15
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, 617525
Publications
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: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 11:31 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Erythrokeratodermia variabilis et progressiva 3, OMIM:617525
- Palmoplantar keratoderma with congenital alopecia, OMIM:104100
- OMIM
- 121014
- Clinvar variants
- Variants in GJA1
- Penetrance
- None
- Publications
- 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
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_21_MOI was removed from gene: GJA1.
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene GJA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: GJA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_21_MOI tag was added to gene: GJA1.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GJA1 were changed from ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, 617525 to Erythrokeratodermia variabilis et progressiva 3, OMIM:617525; Palmoplantar keratoderma with congenital alopecia, OMIM:104100
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, 617525 for gene: GJA1 Publications for gene GJA1 were changed from to 25398053
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to GJA1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: GJA1 was added gene: GJA1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GJA1 were set to ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, 617525