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Cardiomyopathy_Paediatric
Gene: MRPL44

MRPL44 (mitochondrial ribosomal protein L44)
EnsemblGeneIds (GRCh38): ENSG00000135900
EnsemblGeneIds (GRCh37): ENSG00000135900
OMIM: 611849, Gene2Phenotype
MRPL44 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families reported. HCM is a prominent feature of the phenotype.
Created: 28 Aug 2020, 6:28 a.m. | Last Modified: 28 Aug 2020, 6:28 a.m.

Panel Version: 0.4

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 16, MIM# 615395

Publications

Created: 28 Aug 2020, 6:28 a.m.
Last Modified: 28 Aug 2020, 6:28 a.m.
Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
London South GLH
NHS GMS

Phenotypes

Combined oxidative phosphorylation deficiency 16, 615395

OMIM

Clinvar variants

Variants in MRPL44

Penetrance

None

Publications

Panels with this gene

History Filter Activity

28 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mrpl44 has been classified as Green List (High Evidence).

28 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MRPL44 were changed from Combined oxidative phosphorylation deficiency 16, 615395; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Combined oxidative phosphorylation deficiency 16, 615395

28 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MRPL44 were changed from ?Combined oxidative phosphorylation deficiency 16, 615395; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Combined oxidative phosphorylation deficiency 16, 615395; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)

28 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MRPL44 were set to

28 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MRPL44 was added gene: MRPL44 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,London South GLH,Expert Review Green 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)