This Panel is marked as Internal
Undiagnosed neurocutaneous 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
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Waardenburg syndrome, type 4C, 613266
- PCWH syndrome, 609136
- Waardenburg syndrome, type 2E, with or without neurological involvement, 611584
- Waardenburg Syndrome
- OMIM
- 602229
- Clinvar variants
- Variants in SOX10
- Penetrance
- Complete
- Panels with this gene
-
- White matter disorders and cerebral calcification - childhood onset
- Intellectual disability
- Paediatric pseudo-obstruction syndrome
- Deafness and congenital structural abnormalities
- Pigmentary skin disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Gastrointestinal neuromuscular disorders
- Inherited white matter disorders
- Fetal anomalies
- Familial Hirschsprung Disease
- Hypogonadotropic hypogonadism (GMS)
- Differences in sex development
- Monogenic hearing loss
- Hypogonadotropic hypogonadism
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- DDG2P
History Filter Activity
10 Dec 2015, Gel status: 2
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)SOX10 was added to Undiagnosed neurocutaneous disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
10 Dec 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SOX10 was added to Undiagnosed neurocutaneous disorderspanel. Sources: Radboud University Medical Center, Nijmegen
10 Dec 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SOX10 was created by ellenmcdonagh