Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: PRDM9EnsemblGeneIds (GRCh38): ENSG00000164256
EnsemblGeneIds (GRCh37): ENSG00000164256
OMIM: 609760, Gene2Phenotype
PRDM9 is in 2 panels
1 review
Chirag Patel (Genetic Health Queensland)
The primordial follicle pool is determined by the meiosis process, which is initiated by programmed DNA double strand breaks (DSB) and homologous recombination. PRDM9 is a meiosis-specific histone H3 methyltransferase and a major determinant of meiotic recombination hotspots in mammals.
3 pathogenic heterozygous variants in PRDM9 identified in 4 patients with POI. Functional studies showed the variants in PRDM9 impaired its methyltransferase activity. Prdm9+/- mice were subfertile, and showed increased percentage of germ cells at abnormal pachytene stage with decreased number of PRDM9-dependent DSBs and insufficient recombination.
Sources: LiteratureCreated: 5 Jan 2022, 6:30 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Premature ovarian insufficiency, no OMIM #
Publications
- PMID: 34257419
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Inherited primary ovarian failure MONDO:0019852
- OMIM
- 609760
- Clinvar variants
- Variants in PRDM9
- Penetrance
- None
- Publications
-
- PMID: 34257419
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PRDM9 were changed from Premature ovarian insufficiency, no OMIM # to Inherited primary ovarian failure MONDO:0019852
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: prdm9 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: prdm9 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: PRDM9 was added gene: PRDM9 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: PRDM9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRDM9 were set to PMID: 34257419 Phenotypes for gene: PRDM9 were set to Premature ovarian insufficiency, no OMIM # Review for gene: PRDM9 was set to GREEN