Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: PREPLEnsemblGeneIds (GRCh38): ENSG00000138078
EnsemblGeneIds (GRCh37): ENSG00000138078
OMIM: 609557, Gene2Phenotype
PREPL is in 8 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
At least 5 unrelated cases reported with hypergonadotrophic hypogonadism or absence of the ovaries as a feature of the condition.
Sources: LiteratureCreated: 26 Nov 2021, 4:19 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypotonia-cystinuria syndrome; premature ovarian failure
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Hypotonia-cystinuria syndrome
- premature ovarian failure
- OMIM
- 609557
- Clinvar variants
- Variants in PREPL
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: prepl has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: prepl has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PREPL was added gene: PREPL was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PREPL were set to 34794894; 28726805; 30924587; 32218803 Phenotypes for gene: PREPL were set to Hypotonia-cystinuria syndrome; premature ovarian failure Review for gene: PREPL was set to GREEN