Possible mitochondrial disorder - nuclear genes
Gene: MRPL12
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One case with functional studiesCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Growth retardation and neurological deterioration
Publications
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 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.Created: 29 Mar 2019, 1:28 p.m.
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
Growth retardation and neurological deterioration
Publications
I can only find a single reported family in the literature.Created: 30 Aug 2018, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Gene: mrpl12 has been classified as Amber List (Moderate Evidence).
gene: MRPL12 was added gene: MRPL12 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MRPL12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPL12 were set to 23603806 Phenotypes for gene: MRPL12 were set to Growth retardation and neurological deterioration