Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: SOHLH2EnsemblGeneIds (GRCh38): ENSG00000120669
EnsemblGeneIds (GRCh37): ENSG00000120669
OMIM: 616066, Gene2Phenotype
SOHLH2 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sohlh2 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SOHLH2 were changed from to Premature ovarian failure
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SOHLH2 were set to
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
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