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STRs in panel
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Inborn errors of metabolism

Gene: MRPL44

Green List (high evidence)

MRPL44 (mitochondrial ribosomal protein L44)
EnsemblGeneIds (GRCh38): ENSG00000135900
EnsemblGeneIds (GRCh37): ENSG00000135900
OMIM: 611849, Gene2Phenotype
MRPL44 is in 4 panels

3 reviews

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, 1:39 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Patients from three unrelated families reported in the literature with bi-allelic variants in this gene.
Created: 30 Aug 2018, 8:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 16, MIM#615395

Publications

Variants in this GENE are reported as part of current diagnostic practice

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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
Publications
Panels with this gene

History Filter Activity

29 Mar 2019, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: MRPL44 were set to

29 Mar 2019, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: MRPL44 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

29 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: MRPL44 was added gene: MRPL44 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: MRPL44 was set to Unknown Phenotypes for gene: MRPL44 were set to ?Combined oxidative phosphorylation deficiency 16, 615395; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)