Pigmentary skin disorders
Gene: SOX10EnsemblGeneIds (GRCh38): ENSG00000100146
EnsemblGeneIds (GRCh37): ENSG00000100146
OMIM: 602229, Gene2Phenotype
SOX10 is in 17 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; PCWH, WAARDENBURG SYNDROME, TYPE 4C; WS4C, WAARDENBURG SYNDROME, TYPE 2E; WS2E
Publications
Rebecca Foulger (Genomics England curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- PCWH, WAARDENBURG SYNDROME, TYPE 4C
- Waardenburg syndrome
- PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
- WS4C, WAARDENBURG SYNDROME, TYPE 2E
- WS2E
- OMIM
- 602229
- Clinvar variants
- Variants in SOX10
- Penetrance
- None
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Deafness and congenital structural abnormalities
- Hypogonadotropic hypogonadism (GMS)
- Gastrointestinal neuromuscular disorders
- Inherited white matter disorders
- Differences in sex development
- Pigmentary skin disorders
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Intellectual disability
- Hypogonadotropic hypogonadism
- Monogenic hearing loss
- Hereditary neuropathy or pain disorder
- DDG2P
- Hereditary neuropathy
- Fetal anomalies
History Filter Activity
Set Phenotypes, Set publications
Catherine Snow (Genomics England)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
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to SOX10.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)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