Possible mitochondrial disorder - nuclear genes

Gene: MRPL3

Green List (high evidence)

Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 2 unrelated families (4 sibs + 1 unrelated case) and functional studies

Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 9, 614582

Publications

• 21786366
• 27815843

Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.

Created: 10 May 2019, 1:50 p.m.

Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Amber on the Mitochondrial disorders panel (code 112, Version 1.135) due to two family reports - further evidence needs to be submitted to support promoting this gene family member to Green.

Created: 29 Mar 2019, 1:32 p.m.

Green List (high evidence)

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 9, 614582

Publications

• 27815843
• 21786366

I don't know

Two unrelated families reported in the literature to date. Merits Amber.

Created: 30 Aug 2018, 8:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 9, MIM#614582

Publications

• 27815843
• 21786366

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)