Mitochondrial disease
Gene: SDHD

SDHD (succinate dehydrogenase complex subunit D)
EnsemblGeneIds (GRCh38): ENSG00000204370
EnsemblGeneIds (GRCh37): ENSG00000204370
OMIM: 602690, Gene2Phenotype
SDHD is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants result in a mitochondrial disorder. Note mono-allelic variants are associated with cancer predisposition syndrome.
Created: 31 Jan 2021, 6:23 a.m. | Last Modified: 31 Jan 2021, 6:23 a.m.

Panel Version: 0.568

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167

Publications

Created: 31 Jan 2021, 6:23 a.m.
Last Modified: 31 Jan 2021, 6:23 a.m.
Panel version: 0.568

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 3, MIM# 619167

OMIM

602690

Clinvar variants

Variants in SDHD

Penetrance

None

Publications

Panels with this gene