Mitochondrial disorders
Gene: MRPS16
Please note this additional perinatal lethal case reported in the literature as part of a big series. May be merits Amber.Created: 30 Aug 2018, 8:22 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 2, MIM#610498
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Additional case reported - promoted from Red to Amber.Created: 29 Mar 2019, 1:46 p.m.
One case report in OMIM.Created: 16 Aug 2016, 11:46 a.m.
Publications for gene: MRPS16 were set to
Mode of inheritance for gene: MRPS16 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Victorian Clinical Genetics Services was added to MRPS16. Panel: Mitochondrial disorders
MRPS16 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
MRPS16 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
MRPS16 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen