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  3. SDHAF3
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Mitochondrial disorder with complex II deficiency

Gene: SDHAF3

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

4 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.
Created: 12 Mar 2024, 5 p.m. | Last Modified: 12 Mar 2024, 5 p.m.
Panel Version: 2.10
Created: 12 Mar 2024, 5 p.m.
Last Modified: 12 Mar 2024, 5 p.m.
Panel version: 2.10

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Created: 10 May 2019, 10:37 a.m.
Created: 10 May 2019, 10:37 a.m.

Panel version: 0.14

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, 10:31 a.m.

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

Publications

  • none found

Created: 10 May 2019, 10:31 a.m.

Panel version: 0.12

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. Gene Symbol submitted: SDHAF3; Suggested intial gene rating: Green.
Created: 1 Feb 2019, 4:31 p.m.

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

Created: 1 Feb 2019, 4:31 p.m.

Panel version: 0.3

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • No OMIM phenotype
OMIM
615773
Clinvar variants
Variants in SDHAF3
Penetrance
None
Panels with this gene

History Filter Activity

12 Mar 2024, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: sdhaf3 has been classified as Red List (Low Evidence).

10 May 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).

25 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

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

1 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 Mitochondrial disorder with complex II deficiency. 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