Gastrointestinal neuromuscular disorders
Gene: SOX10
SOX10 (SRY-box 10)
EnsemblGeneIds (GRCh38): ENSG00000100146
EnsemblGeneIds (GRCh37): ENSG00000100146
OMIM: 602229, Gene2Phenotype
SOX10 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000100146
EnsemblGeneIds (GRCh37): ENSG00000100146
OMIM: 602229, Gene2Phenotype
SOX10 is in 17 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to expert review. At least 8 reports for variants in patients with Waardenburg syndrome, type 4C 613266, and this is a confirmed DD gene for this phenotype.Created: 19 Oct 2016, 1:16 p.m.
Neil shah (GOSH)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Waardenburg syndrome, type 4C 613266
- OMIM
- 602229
- Clinvar variants
- Variants in SOX10
- Penetrance
- Complete
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Deafness and congenital structural abnormalities
- DDG2P
- Hypogonadotropic hypogonadism (GMS)
- Gastrointestinal neuromuscular disorders
- Intellectual disability
- Inherited white matter disorders
- Differences in sex development
- Pigmentary skin disorders
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Hypogonadotropic hypogonadism
- Monogenic hearing loss
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Rare syndromic craniosynostosis or isolated multisuture synostosis
History Filter Activity
26 Oct 2016, Gel status: 4
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.
19 Oct 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
31 Aug 2016, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)SOX10 was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Radboud University Medical Center, Nijmegen
31 Aug 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)SOX10 was created by sleigh