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
-
- Hereditary neuropathy
- Hypogonadotropic hypogonadism (GMS)
- Deafness and congenital structural abnormalities
- DDG2P
- Gastrointestinal neuromuscular disorders
- Inherited white matter disorders
- Differences in sex development
- Pigmentary skin disorders
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Hereditary neuropathy or pain disorder
- Hypogonadotropic hypogonadism
- Monogenic hearing loss
- Fetal anomalies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
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