Possible mitochondrial disorder - nuclear genes
Gene: MRPL44EnsemblGeneIds (GRCh38): ENSG00000135900
EnsemblGeneIds (GRCh37): ENSG00000135900
OMIM: 611849, Gene2Phenotype
MRPL44 is in 4 panels
3 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Combined oxidative phosphorylation deficiency 16, 615395
Publications
Zornitza Stark (Australian Genomics)
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)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- ?Combined oxidative phosphorylation deficiency 16, 615395
- OMIM
- 611849
- Clinvar variants
- Variants in MRPL44
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: MRPL44 was added gene: MRPL44 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MRPL44 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPL44 were set to 25797485; 23315540 Phenotypes for gene: MRPL44 were set to ?Combined oxidative phosphorylation deficiency 16, 615395