Mitochondrial disease
Gene: SDHAF1

SDHAF1 (succinate dehydrogenase complex assembly factor 1)
EnsemblGeneIds (GRCh38): ENSG00000205138
EnsemblGeneIds (GRCh37): ENSG00000205138
OMIM: 612848, Gene2Phenotype
SDHAF1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 families reported, functional data.

Presentation is typically with leukoencephalopathy.
Created: 31 Jan 2021, 6:11 a.m. | Last Modified: 31 Jan 2021, 6:11 a.m.

Panel Version: 0.565

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166

Publications

Created: 31 Jan 2021, 6:11 a.m.
Last Modified: 31 Jan 2021, 6:11 a.m.
Panel version: 0.565

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

Phenotypes

Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166

OMIM

612848

Clinvar variants

Variants in SDHAF1

Penetrance

None

Publications

Panels with this gene