Inherited white matter disorders
Gene: SDHD
Comment on list classification: Insufficient variant reported to dateCreated: 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 171300Created: 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
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for SDHD were set to Mitochondrial complex II deficiency 252011
SDHD was added to Inherited white matter disorderspanel. Sources: Literature,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
SDHD was created by sleigh