Pigmentary skin disorders
Gene: GNAS
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, imprinted status unknown
Phenotypes
McCune-Albright 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: GNAS; 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.
Tag mosaicism tag was added to gene: GNAS.
Tag somatic tag was added to gene: GNAS.
Source Expert Review Red was added to GNAS. Added phenotypes McCune-Albright syndrome for gene: GNAS Rating Changed from Green List (high evidence) to Red List (low evidence)
Source London North GLH was added to GNAS.
gene: GNAS was added gene: GNAS was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GNAS were set to McCune-Albright syndrome