Mitochondrial disease
Gene: SDHAF2
SDHAF2 (succinate dehydrogenase complex assembly factor 2)
EnsemblGeneIds (GRCh38): ENSG00000167985
EnsemblGeneIds (GRCh37): ENSG00000167985
OMIM: 613019, Gene2Phenotype
SDHAF2 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000167985
EnsemblGeneIds (GRCh37): ENSG00000167985
OMIM: 613019, Gene2Phenotype
SDHAF2 is in 11 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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