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  3. MRPS22
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Cardiomyopathy_Paediatric

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 5 , MIM#611719

Created: 15 Apr 2021, 10:46 a.m.
Last Modified: 15 Apr 2021, 10:46 a.m.
Panel version: 0.78

John Christodoulou (Murdoch Children's Research Institute)

Green List (high evidence)

Three independent reports

the last report suggested the patient also had a Cornelia de Lange-like phenotype

see OMIM 611719
Sources: Literature
Created: 15 Apr 2021, 5:58 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hypertrophic or dilated cardiomyopathy; microcephaly; hypotonia; spastic tetraplegia; abnormal brain MRI

Publications

Created: 15 Apr 2021, 5:58 a.m.

Panel version: 0.65

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 5 , MIM#611719
  • hypertrophic or dilated cardiomyopathy
  • microcephaly
  • hypotonia
  • spastic tetraplegia
  • abnormal brain MRI
OMIM
605810
Clinvar variants
Variants in MRPS22
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mrps22 has been classified as Green List (High Evidence).

15 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MRPS22 were changed from hypertrophic or dilated cardiomyopathy; microcephaly; hypotonia; spastic tetraplegia; abnormal brain MRI to Combined oxidative phosphorylation deficiency 5 , MIM#611719; hypertrophic or dilated cardiomyopathy; microcephaly; hypotonia; spastic tetraplegia; abnormal brain MRI

15 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MRPS22 were set to PMID: 17873122: PMID: 28752220: PMID: 21189481

15 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mrps22 has been classified as Green List (High Evidence).

15 Apr 2021, Gel status: 0

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

John Christodoulou (Murdoch Children's Research Institute)

gene: MRPS22 was added gene: MRPS22 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS22 were set to PMID: 17873122: PMID: 28752220: PMID: 21189481 Phenotypes for gene: MRPS22 were set to hypertrophic or dilated cardiomyopathy; microcephaly; hypotonia; spastic tetraplegia; abnormal brain MRI Penetrance for gene: MRPS22 were set to Complete Review for gene: MRPS22 was set to GREEN