White matter disorders and cerebral calcification - narrow panel
Gene: SOX10EnsemblGeneIds (GRCh38): ENSG00000100146
EnsemblGeneIds (GRCh37): ENSG00000100146
OMIM: 602229, Gene2Phenotype
SOX10 is in 17 panels
0 reviews
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, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
- peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy
- OMIM
- 602229
- Clinvar variants
- Variants in SOX10
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness and congenital structural abnormalities
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Hereditary neuropathy or pain disorder
- Paediatric pseudo-obstruction syndrome
- Hypogonadotropic hypogonadism (GMS)
- Monogenic hearing loss
- Gastrointestinal neuromuscular disorders
- White matter disorders and cerebral calcification - narrow panel
- Inherited white matter disorders
- Hereditary neuropathy
- Familial Hirschsprung Disease
- Intellectual disability
- Hypogonadotropic hypogonadism
- DDG2P
- Pigmentary skin disorders
- Fetal anomalies
- Differences in sex development
History Filter Activity
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: SOX10 was added gene: SOX10 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOX10 were set to 25655951 Phenotypes for gene: SOX10 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy