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Mitochondrial disease

Gene: SDHAF2

Red List (low evidence)

SDHAF2 (succinate dehydrogenase complex assembly factor 2)
EnsemblGeneIds (GRCh38): ENSG00000167985
EnsemblGeneIds (GRCh37): ENSG00000167985
OMIM: 613019, Gene2Phenotype
SDHAF2 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Only published evidence I can find is for the link with paragangliomas not mitochondrial disease.
Created: 18 Mar 2020, 1:19 a.m. | Last Modified: 18 Mar 2020, 1:19 a.m.
Panel Version: 0.161

Phenotypes
Paragangliomas 2, MIM# 601650

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Paragangliomas 2, MIM# 601650
OMIM
613019
Clinvar variants
Variants in SDHAF2
Penetrance
None
Panels with this gene

History Filter Activity

18 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sdhaf2 has been classified as Red List (Low Evidence).

18 Mar 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SDHAF2 were changed from to Paragangliomas 2, MIM# 601650

18 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sdhaf2 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SDHAF2 was added gene: SDHAF2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: SDHAF2 was set to Unknown