Mitochondrial disorders
Gene: MRPL44EnsemblGeneIds (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 due to reports in 3 unrelated cases/families.Created: 29 Mar 2019, 1:37 p.m.
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
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
- Phenotypes
-
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- ?Combined oxidative phosphorylation deficiency 16, 615395
- OMIM
- 611849
- Clinvar variants
- Variants in MRPL44
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: MRPL44 were set to
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for gene: MRPL44 was changed from to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: mrpl44 has been classified as Green List (High Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to MRPL44. Panel: Mitochondrial disorders
Added New Source
Ellen McDonagh (Genomics England Curator)MRPL44 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)MRPL44 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)MRPL44 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen