Rare genetic inflammatory skin disorders
Gene: GJA1The 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, 2:49 p.m. | Last Modified: 31 Jan 2023, 2:49 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.
EKVP3 (MIM: 617525) which manifests in transient erythematous patches is associated with monoallelic variants only. Biallelic variants are not pertinent to this panel.Created: 31 Aug 2021, 2:28 p.m. | Last Modified: 31 Aug 2021, 2:28 p.m.
Panel Version: 1.39
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3; EKVP3
Publications
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, 2:02 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Tag Q3_21_MOI was removed from gene: GJA1.
Mode of inheritance for gene GJA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GJA1 were changed from Palmoplantar keratoderma with congenital alopecia, OMIM:104100; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, OMIM:617525 to Erythrokeratodermia variabilis et progressiva 3, OMIM:617525
Mode of inheritance for gene: GJA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q3_21_MOI tag was added to gene: GJA1.
Phenotypes for gene: GJA1 were changed from PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3; EKVP3 to Palmoplantar keratoderma with congenital alopecia, OMIM:104100; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, OMIM:617525
Added phenotypes ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3; EKVP3 for gene: GJA1 Publications for gene GJA1 were changed from to 25398053
Source London North GLH was added to GJA1.
gene: GJA1 was added gene: GJA1 was added to Rare genetic inflammatory 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 PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1