Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: SOHLH1EnsemblGeneIds (GRCh38): ENSG00000165643
EnsemblGeneIds (GRCh37): ENSG00000165643
OMIM: 610224, Gene2Phenotype
SOHLH1 is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
3 unrelated families with homozygous variants and a supporting null mouse model.Created: 17 Jun 2020, 11:27 p.m. | Last Modified: 17 Jun 2020, 11:27 p.m.
Panel Version: 0.2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ovarian dysgenesis 5 MIM#617690
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Genetic Health QLD
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Ovarian dysgenesis 5 MIM#617690
- OMIM
- 610224
- Clinvar variants
- Variants in SOHLH1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added New Source, Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Source Genetic Health QLD was added to SOHLH1. Mode of inheritance for gene SOHLH1 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: sohlh1 has been classified as Green List (High Evidence).
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: SOHLH1 were changed from to Ovarian dysgenesis 5 MIM#617690
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: SOHLH1 were set to
Created, Added New Source, Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)gene: SOHLH1 was added gene: SOHLH1 was added to Amenorrhoea. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SOHLH1 was set to BIALLELIC, autosomal or pseudoautosomal