Pigmentary skin disordersGene: SOX10
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; PCWH, WAARDENBURG SYNDROME, TYPE 4C; WS4C, WAARDENBURG SYNDROME, TYPE 2E; WS2E
Green rating appropriate as discussed with Anna de Burca: Associated with Waardenburg syndrome, which can present with changes in skin pigmentation. Confirmed rating on DD-G2P for WAARDENBURG SYNDROME TYPE 2E and WAARDENBURG SYNDROME TYPE 4C, and Green on the 'Hearing loss' panel with Waardenburg phenotypes.
Created: 7 Feb 2019, 2:24 p.m.
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: SOX10; 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 WS4C, WAARDENBURG SYNDROME, TYPE 2E; PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; PCWH, WAARDENBURG SYNDROME, TYPE 4C; WS2E for gene: SOX10 Publications for gene SOX10 were changed from to 9462749; 21965087; 10762540
Source London North GLH was added to SOX10.
gene: SOX10 was added gene: SOX10 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SOX10 were set to Waardenburg syndrome