Primary ovarian insufficiency
Gene: SOHLH2
SOHLH2 (spermatogenesis and oogenesis specific basic helix-loop-helix 2)
EnsemblGeneIds (GRCh38): ENSG00000120669
EnsemblGeneIds (GRCh37): ENSG00000120669
OMIM: 616066, Gene2Phenotype
SOHLH2 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000120669
EnsemblGeneIds (GRCh37): ENSG00000120669
OMIM: 616066, Gene2Phenotype
SOHLH2 is in 1 panel
1 review
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as amber as variants reported only in sporadic patients, and the gene is not associated with the phenotype in OMIMCreated: 30 May 2017, 1:01 p.m.
Five novel missense variants idetified in chinese and serbian cohorts. No family members available to show segregation.
Created: 26 May 2017, 11:06 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Primary ovarian insufficiency
- OMIM
- 616066
- Clinvar variants
- Variants in SOHLH2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
31 May 2017, Gel status: 2
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoting to Version 1 on 31-05-2017, after internal curation and review.
30 May 2017, Gel status: 2
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
30 May 2017, Gel status: 2
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
25 May 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)SOHLH2 was created by arianna
25 May 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)SOHLH2 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature