Pigmentary skin disordersGene: MYO5A
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
GRISCELLI SYNDROME, TYPE 1; GS1
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: MYO5A; 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.
Added phenotypes GRISCELLI SYNDROME, TYPE 1; GS1 for gene: MYO5A Publications for gene MYO5A were changed from to 9207796
Source London North GLH was added to MYO5A.
gene: MYO5A was added gene: MYO5A was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO5A were set to Griscelli syndrome