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Possible mitochondrial disorder - nuclear genes

Gene: SDHAF3

Amber List (moderate evidence)

SDHAF3 (succinate dehydrogenase complex assembly factor 3)
EnsemblGeneIds (GRCh38): ENSG00000196636
EnsemblGeneIds (GRCh37): ENSG00000196636
OMIM: 615773, Gene2Phenotype
SDHAF3 is in 3 panels

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: no reports of human mitochondrial disease; complex II assembly factor
Created: 10 May 2019, 1:02 p.m.

Mode of inheritance

No OMIM phenotype


  • none found

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently 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, 4:43 p.m.

Ivone Leong (Genomics England Curator)

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

No OMIM phenotype


Mode of Inheritance
  • Expert Review Amber
  • No OMIM phenotype
Clinvar variants
Variants in SDHAF3
Panels with this gene

History Filter Activity

29 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: sdhaf3 has been classified as Amber List (Moderate Evidence).

4 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: SDHAF3 was added gene: SDHAF3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SDHAF3 was set to Unknown Phenotypes for gene: SDHAF3 were set to No OMIM phenotype