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
-
- Mitochondrial disorder with complex II deficiency
- Inherited phaeochromocytoma and paraganglioma
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- Sarcoma cancer susceptibility
- Inherited predisposition to GIST
- Inherited renal cancer
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Genodermatoses with malignancies
- Mitochondrial disorders
- Childhood solid tumours
- Adult solid tumours for rare disease
- Paediatric or syndromic cardiomyopathy
- Sarcoma susceptibility
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Inherited non-medullary thyroid cancer
- Fetal anomalies
- White matter disorders and cerebral calcification - narrow panel
- Neuroendocrine cancer pertinent cancer susceptibility
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