Inherited white matter disorders
Gene: SDHD

SDHD (succinate dehydrogenase complex subunit D)
EnsemblGeneIds (GRCh38): ENSG00000204370
EnsemblGeneIds (GRCh37): ENSG00000204370
OMIM: 602690, Gene2Phenotype
SDHD is in 24 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Comment on list classification: Insufficient variant reported to date
Created: 26 Aug 2016, 10 a.m.

Comment on phenotypes: Variants also reported in Carcinoid tumors, intestinal 114900; Cowden syndrome 3 615106; Merkel cell carcinoma, somatic; Paraganglioma and gastric stromal sarcoma 606864; Paragangliomas 1, with or without deafness 168000; Pheochromocytoma 171300
Created: 26 Aug 2016, 8:07 a.m.

Associated with phenotype in OMIM, not in G2P. Three variants reported in two publications (one homozygote and one compound heterozygote)
Created: 26 Aug 2016, 7:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex II deficiency 252011

Publications

Created: 26 Aug 2016, 7:45 a.m.

Panel version: 0.421

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Literature

Phenotypes

Mitochondrial complex II deficiency 252011

OMIM

602690

Clinvar variants

Variants in SDHD

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

6 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

26 Aug 2016, Gel status: 1