Pigmentary skin disordersGene: GNA11
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
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: GNA11; 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 GNA11. Added phenotypes Extensive dermal melanocytosis; Phakomatosis pigmentovascularis for gene: GNA11 Rating Changed from Green List (high evidence) to Red List (low evidence)
Source London North GLH was added to GNA11.
gene: GNA11 was added gene: GNA11 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GNA11 were set to Phakomatosis pigmentovascularis; Extensive dermal melanocytosis