Leukodystrophy Victorian Clinical Genetics Services
Gene: SOX10EnsemblGeneIds (GRCh38): ENSG00000100146
EnsemblGeneIds (GRCh37): ENSG00000100146
OMIM: 602229, Gene2Phenotype
SOX10 is in 17 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 602229
- Clinvar variants
- Variants in SOX10
- Penetrance
- None
- Panels with this gene
-
- Monogenic hearing loss
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Deafness and congenital structural abnormalities
- Hypogonadotropic hypogonadism (GMS)
- Gastrointestinal neuromuscular disorders
- Differences in sex development
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Intellectual disability
- Pigmentary skin disorders
- Hypogonadotropic hypogonadism
- Hereditary neuropathy or pain disorder
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)SOX10 was added to Leukodystrophy Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
Created
Sarah Leigh (Genomics England Curator)SOX10 was created by Sarah Leigh