Pigmentary skin disordersGene: GNAQ
Removed - test not fit for purpose as only v.low level mosaicism. To be fulfilled by mosaic panel.
Created: 12 Dec 2019, 12:23 p.m. | Last Modified: 12 Dec 2019, 12:23 p.m.
Panel Version: 0.25
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phakomatosis pigmentovascularis; Extensive dermal melanocytosis; Sturge Weber syndrome
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, 11:31 a.m.
Source Expert Review Red was added to GNAQ. Added phenotypes Sturge Weber syndrome; Extensive dermal melanocytosis; Phakomatosis pigmentovascularis for gene: GNAQ Rating Changed from Green List (high evidence) to Red List (low evidence)
Source London North GLH was added to GNAQ.
gene: GNAQ was added gene: GNAQ was added to Pigmentary skin disorders. 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