Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: SOHLH2

Red List (low evidence)

SOHLH2 (spermatogenesis and oogenesis specific basic helix-loop-helix 2)
EnsemblGeneIds (GRCh38): ENSG00000120669
EnsemblGeneIds (GRCh37): ENSG00000120669
OMIM: 616066, Gene2Phenotype
SOHLH2 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Heterozygous variants in this gene found to be enriched in a cohort of women with POF, substantial data including mouse models implicating this gene in infertility but paucity of well characterised cases.
Created: 11 Dec 2020, 4:48 a.m. | Last Modified: 11 Dec 2020, 4:48 a.m.
Panel Version: 0.123

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Premature ovarian failure

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health QLD
Phenotypes
  • Premature ovarian failure
OMIM
616066
Clinvar variants
Variants in SOHLH2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sohlh2 has been classified as Red List (Low Evidence).

11 Dec 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SOHLH2 were changed from to Premature ovarian failure

11 Dec 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SOHLH2 were set to

11 Dec 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SOHLH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 Dec 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

gene: SOHLH2 was added gene: SOHLH2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD Mode of inheritance for gene: SOHLH2 was set to Unknown