Mitochondrial disorders
Gene: MRPL44Comment on list classification: Promoted from Red to Green due to reports in 3 unrelated cases/families.Created: 29 Mar 2019, 1:37 p.m.
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
Publications for gene: MRPL44 were set to
Mode of inheritance for gene: MRPL44 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: mrpl44 has been classified as Green List (High Evidence).
Victorian Clinical Genetics Services was added to MRPL44. Panel: Mitochondrial disorders
MRPL44 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
MRPL44 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
MRPL44 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen