Hypogonadotropic hypogonadism (GMS)
Gene: SOX10EnsemblGeneIds (GRCh38): ENSG00000100146
EnsemblGeneIds (GRCh37): ENSG00000100146
OMIM: 602229, Gene2Phenotype
SOX10 is in 17 panels
5 reviews
Catherine Snow (Genomics England)
The 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
Ivone Leong (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Simon Thomas (Wessex Regional Genetics Laboratory)
Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Wessex and West Midlands GLH
- NHS GMS
- South West GLH
- Phenotypes
-
- Waardenburg syndrome type 4C, OMIM:611584
- Waardenburg syndrome, type 2E, with or without neurologic involvement, OMIM:611584
- congenital hypogonadotropic hypogonadism, MONDO:0015770
- OMIM
- 602229
- Clinvar variants
- Variants in SOX10
- Penetrance
- None
- 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
- Hypogonadotropic hypogonadism
- Monogenic hearing loss
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
History Filter Activity
Removed Tag
Catherine Snow (Genomics England)Tag Q2_21_rating was removed from gene: SOX10.
Added New Source, Status Update
Catherine Snow (Genomics England)Source Expert Review Green was added to SOX10. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Ivone Leong (Genomics England Curator)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
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: sox10 has been classified as Amber List (Moderate Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: SOX10 were set to 23643381; 15004559; 30914325; 26228106; 24769923; 33082981
Added Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating tag was added to gene: SOX10.
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: SOX10 were set to 23643381; 15004559
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: SOX10 were set to
Added New Source
Ivone Leong (Genomics England Curator)Source Wessex and West Midlands GLH was added to SOX10.
Set Phenotypes
Ivone Leong (Genomics England Curator)Added phenotypes Waardenburg syndrome type 4C (OMIM 611584) for gene: SOX10
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)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