Hypogonadotropic hypogonadism (GMS)
Gene: SOX10The rating of this gene has been updated to GREEN following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 5:03 p.m. | Last Modified: 31 Jan 2023, 5:03 p.m.
Panel Version: 2.5
Comment on list classification: This gene is associated with a phenotype in OMIM and Gene2Phenotype. There are >3 cases of SOX10 variants found in patients with Kallman syndrome. PMID: 33597923 and 33082981 describe 2 patients (Chinese and Japanese) with variants in SOX10 who has Waardenburg syndrome and Kallmann syndrome. Therefore, this gene should be Green on this panel.Created: 24 Mar 2021, 4:11 p.m. | Last Modified: 24 Mar 2021, 4:11 p.m.
Panel Version: 1.27
Comment on publications: More publications (30914325; 26228106; 24769923; 33082981) showing SOX10 variants found in patients affected by Kallman syndrome.Created: 24 Mar 2021, 4:04 p.m. | Last Modified: 24 Mar 2021, 4:04 p.m.
Panel Version: 1.25
Cryptorchidism and hypogonadism is a feature of Kallman Syndrome and WS4C
PMID: 23643381: Reported 6 variants in individuals with Kallman syndrome which is associated with hypogonadotropic hypogonadism. Functional studies performed.
PMID: 15004559: PCWH is caused by dominant-negative mutations (truncating variants) whereas NMD and thus haploinsufficiency results in WS4CCreated: 18 Jul 2020, 8:21 a.m. | Last Modified: 18 Jul 2020, 8:21 a.m.
Panel Version: 1.8
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); Waardenburg syndrome, type 4C (MIM#613266)
Publications
Tag Q2_21_rating was removed from gene: SOX10.
Source Expert Review Green was added to SOX10. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: SOX10 were changed from Waardenburg syndrome type 4C (OMIM 611584) to Waardenburg syndrome type 4C, OMIM:611584; Waardenburg syndrome, type 2E, with or without neurologic involvement, OMIM:611584; congenital hypogonadotropic hypogonadism, MONDO:0015770
Gene: sox10 has been classified as Amber List (Moderate Evidence).
Publications for gene: SOX10 were set to 23643381; 15004559; 30914325; 26228106; 24769923; 33082981
Tag Q2_21_rating tag was added to gene: SOX10.
Publications for gene: SOX10 were set to 23643381; 15004559
Publications for gene: SOX10 were set to
Source Wessex and West Midlands GLH was added to SOX10.
Added phenotypes Waardenburg syndrome type 4C (OMIM 611584) for gene: SOX10
gene: SOX10 was added gene: SOX10 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted