Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: MRPS22
MRPS22 (mitochondrial ribosomal protein S22)
EnsemblGeneIds (GRCh38): ENSG00000175110
EnsemblGeneIds (GRCh37): ENSG00000175110
OMIM: 605810, Gene2Phenotype
MRPS22 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000175110
EnsemblGeneIds (GRCh37): ENSG00000175110
OMIM: 605810, Gene2Phenotype
MRPS22 is in 9 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
A single case with a homozygous nonsense variant (p.R135Q*) with POI from consanguineous parents. 2 homozygous missense variants c.404G>A (p.R135Q) and c.605G>A (p.R202H) identified in 4 females from 2 independent consanguineous families with POI in adolescence, and drosophila model with mRpS22 deficiency specifically in germ cells were infertile and agametic.Created: 11 Dec 2020, 4:23 a.m. | Last Modified: 11 Dec 2020, 4:23 a.m.
Panel Version: 0.112
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ovarian dysgenesis 7 MIM#618117
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Genetic Health QLD
- OMIM
- 605810
- Clinvar variants
- Variants in MRPS22
- Penetrance
- None
- Panels with this gene
History Filter Activity
11 Dec 2020, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mrps22 has been classified as Green List (High Evidence).
11 Dec 2020, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mrps22 has been classified as Green List (High Evidence).
11 Dec 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)gene: MRPS22 was added gene: MRPS22 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD Mode of inheritance for gene: MRPS22 was set to Unknown