Hypogonadotropic hypogonadism

Gene: SOX10

Green List (high evidence)

SOX10 (SRY-box 10)
EnsemblGeneIds (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, 611584
Created: 20 Jun 2016, 10:15 a.m.

Mehul Dattani (UCL Institute of Child Health)

Green List (high evidence)

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

History Filter Activity

28 Oct 2016, Gel status: 4

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.

21 Sep 2016, Gel status: 4

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

20 Jun 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SOX10 were set to Waardenburg syndrome, type 4C 613266

26 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 May 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

SOX10 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Literature,Other

26 May 2016, Gel status: 0

clearsources

Sarah Leigh (Genomics England Curator)

SOX10All sources for gene: SOX10 were removed

26 May 2016, Gel status: 0

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

24 May 2016, Gel status: 0

Approved Gene

Sarah Leigh (Genomics England Curator)

This proposed gene was validated and added to this panel

24 May 2016, Gel status: 0

Added New Source

Mehul Dattani (UCL Institute of Child Health)

SOX10 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources:

24 May 2016, Gel status: 0

Created

Mehul Dattani (UCL Institute of Child Health)

SOX10 was created by mdattani