Mitochondrial disorders
Gene: SFXN4Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 unrelated cases with functional studies.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).Created: 23 May 2019, 3:29 p.m.
Comment on list classification: Promoted from red to green. This gene is associated with a phenotype in OMIM. PMID: 24119684 describes 2 unrelated patients with different variants in this gene who have mitochondrial disorders. The authors also knocked down this gene in the zebrafish, which caused global mitochondrial and respiratory chain defects. Therefore, there is enough evidence to promote this gene to green.Created: 2 May 2019, 3:45 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: sfxn4 has been classified as Green List (High Evidence).
Source NHS GMS was added to SFXN4. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene: sfxn4 has been classified as Green List (High Evidence).
Publications for gene: SFXN4 were set to
Phenotypes for gene: SFXN4 were changed from to Combined oxidative phosphorylation deficiency 18, 615578
Mode of inheritance for gene: SFXN4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Victorian Clinical Genetics Services was added to SFXN4. Panel: Mitochondrial disorders
SFXN4 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert