Inherited white matter disorders
Gene: SOX10EnsemblGeneIds (GRCh38): ENSG00000100146
EnsemblGeneIds (GRCh37): ENSG00000100146
OMIM: 602229, Gene2Phenotype
SOX10 is in 17 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene added and rated green and diagnostic-grade by expert reviewer. It is a onfirmed DD gene for PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE, multiple cases and different variants reported in OMIM for PCWH. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951.Created: 5 Aug 2016, 9:45 a.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_603
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy
- PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
- OMIM
- 602229
- Clinvar variants
- Variants in SOX10
- Penetrance
- Complete
- Publications
- 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
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SOX10 were set to 25655951
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SOX10 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy; PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ian Berry (Leeds Genetics Laboratory)SOX10 was added to Inherited white matter disorderspanel. Sources: Expert list
Created
Ian Berry (Leeds Genetics Laboratory)SOX10 was created by [email protected]