Hypogonadotropic hypogonadism idiopathic

Gene: SOX10

Amber List (moderate evidence)

SOX10 (SRY-box 10)
EnsemblGeneIds (GRCh38): ENSG00000100146
EnsemblGeneIds (GRCh37): ENSG00000100146
OMIM: 602229, Gene2Phenotype
SOX10 is in 17 panels

4 reviews

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)

Green List (high evidence)

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 WS4C
Created: 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)

Red List (low evidence)

Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • 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
Tags
Q2_21_rating
OMIM
602229
Clinvar variants
Variants in SOX10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Mar 2021, Gel status: 2

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

24 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: sox10 has been classified as Amber List (Moderate Evidence).

24 Mar 2021, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SOX10 were set to 23643381; 15004559; 30914325; 26228106; 24769923; 33082981

24 Mar 2021, Gel status: 1

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: SOX10.

24 Mar 2021, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SOX10 were set to 23643381; 15004559

24 Mar 2021, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SOX10 were set to

22 Mar 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source Wessex and West Midlands GLH was added to SOX10.

15 Mar 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Added phenotypes Waardenburg syndrome type 4C (OMIM 611584) for gene: SOX10

15 Mar 2019, Gel status: 1

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