Mosaic skin disorders - deep sequencing
Gene: GNAQAnother publication (PMID: 34124757, Fjaer et al 2021) with a further 5 cases reported with the GNAQ:c.548G>A (R183Q) somatic mutation found in dermal biopsies in patients with Sturge–Weber syndrome-associated features.Created: 3 Nov 2021, 1:39 p.m. | Last Modified: 3 Nov 2021, 1:39 p.m.
Panel Version: 1.5
Phenotypes
Sturge-Weber syndrome, somatic, mosaic, OMIM:185300
Publications
R183Q, Q209P. Mosaicism 5-15% in affected tissue.Created: 5 Dec 2019, 3:40 p.m. | Last Modified: 5 Dec 2019, 3:40 p.m.
Panel Version: 0.16
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Sturge Weber syndrome; Phakomatosis pigmentovascularis; Extensive dermal melanocytosis
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
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: GNAQ; 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, 2:50 p.m.
Phenotypes for gene: GNAQ were changed from Phakomatosis pigmentovascularis; Extensive dermal melanocytosis; Sturge Weber syndrome to Phakomatosis pigmentovascularis; Extensive dermal melanocytosis; Sturge-Weber syndrome, somatic, mosaic, OMIM:185300
Publications for gene: GNAQ were set to 26778290
Mode of pathogenicity for gene: GNAQ was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Publications for gene GNAQ were changed from to 26778290
Source London North GLH was added to GNAQ.
gene: GNAQ was added gene: GNAQ was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GNAQ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GNAQ were set to Phakomatosis pigmentovascularis; Extensive dermal melanocytosis; Sturge Weber syndrome