Pigmentary skin disorders
Gene: GJB3EnsemblGeneIds (GRCh38): ENSG00000188910
EnsemblGeneIds (GRCh37): ENSG00000188910
OMIM: 603324, Gene2Phenotype
GJB3 is in 9 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1; EKVP1
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: GJB3; 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
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
- EKVP1
- Erythrokeratodermia variabilis
- OMIM
- 603324
- Clinvar variants
- Variants in GJB3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1; EKVP1 for gene: GJB3 Publications for gene GJB3 were changed from to 9843209
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to GJB3.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: GJB3 was added gene: GJB3 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GJB3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GJB3 were set to Erythrokeratodermia variabilis