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Mitochondrial disease
Gene: MRPS2

MRPS2 (mitochondrial ribosomal protein S2)
EnsemblGeneIds (GRCh38): ENSG00000122140
EnsemblGeneIds (GRCh37): ENSG00000122140
OMIM: 611971, Gene2Phenotype
MRPS2 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID 34991560: third family.
Created: 15 May 2022, 10:40 a.m. | Last Modified: 15 May 2022, 10:40 a.m.

Panel Version: 0.806

Two unrelated families and functional data.
Created: 12 Apr 2020, 7:57 a.m. | Last Modified: 12 Apr 2020, 7:57 a.m.

Panel Version: 0.336

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 36, MIM# 617950

Publications

Created: 12 Apr 2020, 7:57 a.m.
Last Modified: 12 Apr 2020, 7:57 a.m.
Panel version: 0.806

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

Phenotypes

Combined oxidative phosphorylation deficiency 36, MIM# 617950

OMIM

Clinvar variants

Variants in MRPS2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

15 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MRPS2 were set to 29576219

12 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mrps2 has been classified as Green List (High Evidence).

12 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MRPS2 were changed from to Combined oxidative phosphorylation deficiency 36, MIM# 617950

12 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MRPS2 were set to

12 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MRPS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MRPS2 was added gene: MRPS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: MRPS2 was set to Unknown