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  3. SDHAF2
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Possible mitochondrial disorder - nuclear genes

Gene: SDHAF2

Amber List (moderate evidence)
SDHAF2 (succinate dehydrogenase complex assembly factor 2)
EnsemblGeneIds (GRCh38): ENSG00000167985
EnsemblGeneIds (GRCh37): ENSG00000167985
OMIM: 613019, Gene2Phenotype
SDHAF2 is in 12 panels

5 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
Unknown

Phenotypes
No OMIM phenotype

Publications

  • none found

Created: 10 May 2019, 1:02 p.m.

Panel version: 0.134

Ellen McDonagh (Genomics England Curator)

Comment on list classification: 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, 4:43 p.m.
Created: 29 Mar 2019, 4:43 p.m.

Panel version: 0.119

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
Unknown

Phenotypes
No OMIM phenotype

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Gene encodes a mitochondrial protein, but the only published evidence I can find is for an association of mono-allelic variants with cancer.
Created: 31 Aug 2018, 8:32 a.m.
Created: 31 Aug 2018, 8:32 a.m.

Panel version: Imported from Mitochondrial disorders panel version 1.67

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

aka SDH5
Created: 4 Feb 2016, 9:21 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 4 Feb 2016, 9:21 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.16

History Filter Activity

29 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: sdhaf2 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: SDHAF2 was added gene: SDHAF2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SDHAF2 was set to Unknown Phenotypes for gene: SDHAF2 were set to No OMIM phenotype