Primary ovarian insufficiency
Gene: SOHLH1

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

2 reviews

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Limited but clear evidence
Created: 9 Jun 2017, 4:11 p.m.

Created: 9 Jun 2017, 4:11 p.m.

Panel version: 1.0

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as green as 2 more families have been described (25774885)
Created: 30 May 2017, 12:57 p.m.

Two novel missense variants identified in Chinese and Serbian cohorts. No family members available to show segregation.

Created: 26 May 2017, 11:05 a.m.

Publications

2552723

Created: 26 May 2017, 11:05 a.m.

Panel version: 0.73

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

Phenotypes

Primary ovarian insufficiency

OMIM

610224

Clinvar variants

Variants in SOHLH1

Penetrance

Complete

Publications

Panels with this gene

Primary ovarian insufficiency