Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: MRPS7EnsemblGeneIds (GRCh38): ENSG00000125445
EnsemblGeneIds (GRCh37): ENSG00000125445
OMIM: 611974, Gene2Phenotype
MRPS7 is in 3 panels
1 review
Elena Tucker (Murdoch Children's Research Institute)
The initial report (PMID: 25556185) describes a homozygous missense variant in two sisters with sensorineural deafness, progressive hepatic and renal failure and lactic acidemia. One sister died in early adolescence but the other survived beyond puberty and had primary ovarian insufficiency. Experimental evidence supported causation of the MRPS7 variant.
The second publication (PMID: 36421788) describes sisters with an overlapping phenotype including sensorineural deafness and premature ovarian insufficiency. They both had compound heterozygous (one missense, one nonsense) MRPS7 variants.
Sources: LiteratureCreated: 15 Feb 2023, 1:46 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
sensorineural deafness; renal failure; liver failure; primary ovarian insufficiency
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 34, MIM# 617872
- sensorineural deafness
- renal failure
- liver failure
- primary ovarian insufficiency
- OMIM
- 611974
- Clinvar variants
- Variants in MRPS7
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mrps7 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MRPS7 were changed from sensorineural deafness; renal failure; liver failure; primary ovarian insufficiency to Combined oxidative phosphorylation deficiency 34, MIM# 617872; sensorineural deafness; renal failure; liver failure; primary ovarian insufficiency
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mrps7 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Tucker (Murdoch Children's Research Institute)gene: MRPS7 was added gene: MRPS7 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: MRPS7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS7 were set to PMID: 25556185; 36421788 Phenotypes for gene: MRPS7 were set to sensorineural deafness; renal failure; liver failure; primary ovarian insufficiency Review for gene: MRPS7 was set to AMBER