Possible mitochondrial disorder - nuclear genes
Gene: MRPS16
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 2 'unrelated' cases but only one mutation reported, and functional studiesCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 2, 610498
Publications
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 2, 610498
Publications
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: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.Created: 29 Mar 2019, 1:48 p.m.
One case report in OMIM.Created: 16 Aug 2016, 11:46 a.m.
Gene: mrps16 has been classified as Amber List (Moderate Evidence).
gene: MRPS16 was added gene: MRPS16 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS16 were set to 28749478; 15505824 Phenotypes for gene: MRPS16 were set to Combined oxidative phosphorylation deficiency 2, 610498