Hypogonadotropic hypogonadism
Gene: SOX10Comment 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.
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
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.
SOX10 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for SOX10 were set to Waardenburg syndrome, type 4C 613266
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
SOX10 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Literature,Other
SOX10All sources for gene: SOX10 were removed
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
This proposed gene was validated and added to this panel
SOX10 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources:
SOX10 was created by mdattani