Inherited white matter disorders

Gene: SDHD

Red List (low evidence)

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

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

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

26 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

26 Aug 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SDHD were set to Mitochondrial complex II deficiency 252011

26 Aug 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

SDHD was added to Inherited white matter disorderspanel. Sources: Literature,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

26 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SDHD was created by sleigh