Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: PSMC3IPEnsemblGeneIds (GRCh38): ENSG00000131470
EnsemblGeneIds (GRCh37): ENSG00000131470
OMIM: 608665, Gene2Phenotype
PSMC3IP is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple individuals reported with ovarian dysgenesis or POI.Created: 16 Apr 2022, 5:14 a.m. | Last Modified: 16 Apr 2022, 5:14 a.m.
Panel Version: 0.293
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ovarian dysgenesis 3, MIM# 614324
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Ovarian dysgenesis 3, MIM# 614324
- OMIM
- 608665
- Clinvar variants
- Variants in PSMC3IP
- 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: psmc3ip has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PSMC3IP were changed from Ovarian dysgenesis 3,614324 to Ovarian dysgenesis 3, MIM# 614324
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PSMC3IP were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PSMC3IP was added gene: PSMC3IP was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PSMC3IP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PSMC3IP were set to Ovarian dysgenesis 3,614324