Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: SOHLH1

Green List (high evidence)

SOHLH1 (spermatogenesis and oogenesis specific basic helix-loop-helix 1)
EnsemblGeneIds (GRCh38): ENSG00000165643
EnsemblGeneIds (GRCh37): ENSG00000165643
OMIM: 610224, Gene2Phenotype
SOHLH1 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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

11 Dec 2020, Gel status: 3

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

17 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: sohlh1 has been classified as Green List (High Evidence).

17 Jun 2020, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: SOHLH1 were changed from to Ovarian dysgenesis 5 MIM#617690

17 Jun 2020, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: SOHLH1 were set to

17 Jun 2020, Gel status: 3

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