Possible mitochondrial disorder - nuclear genes
Gene: SFXN4
Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 2 unrelated cases with functional studiesCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 18, 615578
Publications
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. PMID: 24119684 describes 2 unrelated patients with different variants in this gene, and a knockdown zebrafish model with global mitochondrial and respiratory chain defects.Created: 10 May 2019, 2:07 p.m.
Comment on list classification: Two cases reported in PMID: 24119684. 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 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.Created: 29 Mar 2019, 4:47 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
Combined oxidative phosphorylation deficiency 18, 615578
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: sfxn4 has been classified as Green List (High Evidence).
Gene: sfxn4 has been classified as Green List (High Evidence).
Gene: sfxn4 has been classified as Amber List (Moderate Evidence).
gene: SFXN4 was added gene: SFXN4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SFXN4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SFXN4 were set to 24119684 Phenotypes for gene: SFXN4 were set to Combined oxidative phosphorylation deficiency 18, 615578