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  3. MRPS14
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Cardiomyopathy_Paediatric

Gene: MRPS14

Red List (low evidence)
MRPS14 (mitochondrial ribosomal protein S14)
EnsemblGeneIds (GRCh38): ENSG00000120333
EnsemblGeneIds (GRCh37): ENSG00000120333
OMIM: 611978, Gene2Phenotype
MRPS14 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 38, MIM# 618378

Created: 15 Apr 2021, 10:45 a.m.
Last Modified: 15 Apr 2021, 10:45 a.m.
Panel version: 0.76

John Christodoulou (Murdoch Children's Research Institute)

Red List (low evidence)

1 case reported in the paper above

see OMIM 618378
Sources: Literature
Created: 15 Apr 2021, 5:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hypertrophic cardiomyopathy; growth retardation; hypotonia; intellectual disability

Publications

Created: 15 Apr 2021, 5:50 a.m.

Panel version: 0.65

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Combined oxidative phosphorylation deficiency 38, MIM# 618378
  • hypertrophic cardiomyopathy
  • growth retardation
  • hypotonia
  • intellectual disability
OMIM
611978
Clinvar variants
Variants in MRPS14
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

15 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mrps14 has been classified as Red List (Low Evidence).

15 Apr 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MRPS14 were changed from hypertrophic cardiomyopathy; growth retardation; hypotonia; intellectual disability to Combined oxidative phosphorylation deficiency 38, MIM# 618378; hypertrophic cardiomyopathy; growth retardation; hypotonia; intellectual disability

15 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mrps14 has been classified as Red List (Low 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: MRPS14 was added gene: MRPS14 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: MRPS14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS14 were set to PMID: 30358850 Phenotypes for gene: MRPS14 were set to hypertrophic cardiomyopathy; growth retardation; hypotonia; intellectual disability Penetrance for gene: MRPS14 were set to unknown Review for gene: MRPS14 was set to RED