Hypogonadotropic hypogonadism
Gene: SOX10EnsemblGeneIds (GRCh38): ENSG00000100146
EnsemblGeneIds (GRCh37): ENSG00000100146
OMIM: 602229, Gene2Phenotype
SOX10 is in 17 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Found in 1/4 sources. One reviewer recommends Green. At lease six pathogenic variants found in unrelated Kallmanns with deafness patients (Waardenburg syndrome, type 4C 613266)(in vitro evidence provided)(PMID 23643381)Created: 13 Oct 2016, 2:23 p.m.
Comment on phenotypes: Other associated phenotypes: PCWH syndrome, 609136; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584Created: 20 Jun 2016, 10:15 a.m.
Mehul Dattani (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
PCWH syndrome, 609136; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; Waardenburg syndrome, type 4C, 613266
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Green
- Literature
- Other
- Phenotypes
-
- Waardenburg syndrome, type 4C 613266
- OMIM
- 602229
- Clinvar variants
- Variants in SOX10
- Penetrance
- Complete
- 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
Ellen McDonagh (Genomics England Curator)28th Oct 2016: This panel was revised after external expert review and internal discussion. For several genes that have been shown to contribute to the disorder in a digenic/polygenic manner, the decision was made to only include genes as green if biallelic variants had been reported independently from other genes. Genes with a monoallelic mechanism, that have been shown in some studies in conjunction with variants in other genes, were made red as monoallelic variants in these genes may not provide a complete diagnosis.
Upload gene information
Sarah Leigh (Genomics England Curator)SOX10 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SOX10 were set to Waardenburg syndrome, type 4C 613266
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)SOX10 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Literature,Other
clearsources
Sarah Leigh (Genomics England Curator)SOX10All sources for gene: SOX10 were removed
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene SOX10 were set to PCWH syndrome, 609136; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; Waardenburg syndrome, type 4C, 613266; Kallmann Syndrome with deafness
Approved Gene
Sarah Leigh (Genomics England Curator)This proposed gene was validated and added to this panel
Added New Source
Mehul Dattani (UCL Institute of Child Health)SOX10 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources:
Created
Mehul Dattani (UCL Institute of Child Health)SOX10 was created by mdattani