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  2. Primary ovarian insufficiency
  3. PRDM9
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Primary ovarian insufficiency

Gene: PRDM9

No list
PRDM9 (PR/SET domain 9)
EnsemblGeneIds (GRCh38): ENSG00000164256
EnsemblGeneIds (GRCh37): ENSG00000164256
OMIM: 609760, Gene2Phenotype
PRDM9 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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: Literature
Created: 3 Feb 2022, 8:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Premature ovarian insufficiency

Publications

Created: 3 Feb 2022, 8:06 a.m.

Panel version: 1.63

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Premature ovarian insufficiency
OMIM
609760
Clinvar variants
Variants in PRDM9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Feb 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: PRDM9 was added gene: PRDM9 was added to Primary ovarian insufficiency. Sources: Literature Mode of inheritance for gene: PRDM9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRDM9 were set to 34257419 Phenotypes for gene: PRDM9 were set to Premature ovarian insufficiency Review for gene: PRDM9 was set to GREEN