Mitochondrial disorders
Gene: SFXN4EnsemblGeneIds (GRCh38): ENSG00000183605
EnsemblGeneIds (GRCh37): ENSG00000183605
OMIM: 615564, Gene2Phenotype
SFXN4 is in 5 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment 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.
Ivone Leong (Genomics England Curator)
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.
Shamima Rahman (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Victorian Clinical Genetics Services
- Expert
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 18, 615578
- OMIM
- 615564
- Clinvar variants
- Variants in SFXN4
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: sfxn4 has been classified as Green List (High Evidence).
Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to SFXN4. Rating Changed from Green List (high evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: sfxn4 has been classified as Green List (High Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: SFXN4 were set to
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SFXN4 were changed from to Combined oxidative phosphorylation deficiency 18, 615578
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: SFXN4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to SFXN4. Panel: Mitochondrial disorders
Added New Source
Ellen McDonagh (Genomics England Curator)SFXN4 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert