Cerebral Palsy
Gene: SOX10EnsemblGeneIds (GRCh38): ENSG00000100146
EnsemblGeneIds (GRCh37): ENSG00000100146
OMIM: 602229, Gene2Phenotype
SOX10 is in 14 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual with mono-allelic LOF (stopgain variant) reported in large-scale exome sequencing study (PMID: 38693247).
Sources: LiteratureCreated: 27 May 2024, 2:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
PCWH syndrome, MIM#609136; Waardenburg syndrome, type 2E, with or without neurologic involvement, MIM#611584
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- PCWH syndrome, MIM#609136
- Waardenburg syndrome, type 2E, with or without neurologic involvement, MIM#611584
- OMIM
- 602229
- Clinvar variants
- Variants in SOX10
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Deafness_Isolated
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Hereditary Neuropathy - complex
- Gastrointestinal neuromuscular disease
- Mendeliome
- Hirschsprung disease
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Hereditary Spastic Paraplegia - paediatric
- Differences of Sex Development
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sox10 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sox10 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: SOX10 was added gene: SOX10 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOX10 were set to PMID: 38693247 Phenotypes for gene: SOX10 were set to PCWH syndrome, MIM#609136; Waardenburg syndrome, type 2E, with or without neurologic involvement, MIM#611584 Review for gene: SOX10 was set to RED