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Cardiomyopathies - including childhood onset

Gene: MRPL44

Green List (high evidence)

MRPL44 (mitochondrial ribosomal protein L44)
EnsemblGeneIds (GRCh38): ENSG00000135900
EnsemblGeneIds (GRCh37): ENSG00000135900
OMIM: 611849, Gene2Phenotype
MRPL44 is in 6 panels

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from Red to Green on the Mitochondrial disorders (Version 1.138) gene panel due to to reports in 3 unrelated cases/families, therefore promoting this gene in this panel to reflect this change in rating. See publications for evidence.
Created: 29 Mar 2019, 1:42 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert Review Green
  • London South GLH
Phenotypes
  • ?Combined oxidative phosphorylation deficiency 16, 615395
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
OMIM
611849
Clinvar variants
Variants in MRPL44
Penetrance
None
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MRPL44.

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: MRPL44 was added gene: MRPL44 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH Mode of inheritance for gene: MRPL44 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRPL44 were set to ?Combined oxidative phosphorylation deficiency 16, 615395; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)