Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: MRPS22

Green List (high evidence)

MRPS22 (mitochondrial ribosomal protein S22)
EnsemblGeneIds (GRCh38): ENSG00000175110
EnsemblGeneIds (GRCh37): ENSG00000175110
OMIM: 605810, Gene2Phenotype
MRPS22 is in 9 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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

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