Possible mitochondrial disorder - nuclear genes
Gene: SDHDEnsemblGeneIds (GRCh38): ENSG00000204370
EnsemblGeneIds (GRCh37): ENSG00000204370
OMIM: 602690, Gene2Phenotype
SDHD is in 24 panels
4 reviews
Carl Fratter (Oxford University Hospitals NHS Trust)
Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 2 unrelated cases with functional studiesCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial respiratory chain complex II deficiency, 252011
Publications
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial respiratory chain complex II deficiency, 252011
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Carl Fratter also confirmed that this gene should be promoted from red to green.Created: 7 Mar 2016, 6:14 p.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Mitochondrial respiratory chain complex II deficiency, 252011
- OMIM
- 602690
- Clinvar variants
- Variants in SDHD
- Penetrance
- None
- Publications
- Panels with this gene
-
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- Possible mitochondrial disorder - nuclear genes
- Multiple endocrine tumours
- Childhood solid tumours
- Mitochondrial disorders
- Inherited non-medullary thyroid cancer
- Likely inborn error of metabolism
- Neuroendocrine cancer pertinent cancer susceptibility
- Fetal anomalies
- Inherited renal cancer
- Inherited predisposition to GIST
- Mitochondrial disorder with complex II deficiency
- Inherited phaeochromocytoma and paraganglioma
- White matter disorders and cerebral calcification - narrow panel
- Sarcoma cancer susceptibility
- Monogenic hearing loss
- Undiagnosed metabolic disorders
- Paediatric or syndromic cardiomyopathy
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Genodermatoses with malignancies
- Adult solid tumours for rare disease
History Filter Activity
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: sdhd has been classified as Green List (High Evidence).
Set Phenotypes, Set publications
Ellen McDonagh (Genomics England Curator)Added phenotypes Mitochondrial respiratory chain complex II deficiency, 252011 for gene: SDHD Publications for gene SDHD were changed from to 26008905; 24367056
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: SDHD was added gene: SDHD was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SDHD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDHD were set to Mitochondrial respiratory chain complex II deficiency, 252011