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Mitochondrial disorders

Gene: SFXN4

Green List (high evidence)

SFXN4 (sideroflexin 4)
EnsemblGeneIds (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)

Green List (high evidence)

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

23 May 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: sfxn4 has been classified as Green List (High Evidence).

21 May 2019, Gel status: 3

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)

2 May 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: sfxn4 has been classified as Green List (High Evidence).

2 May 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SFXN4 were set to

2 May 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SFXN4 were changed from to Combined oxidative phosphorylation deficiency 18, 615578

2 May 2019, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: SFXN4 was changed from to BIALLELIC, autosomal or pseudoautosomal

28 Aug 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to SFXN4. Panel: Mitochondrial disorders

30 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SFXN4 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert