Paediatric or syndromic cardiomyopathy
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, 10:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial respiratory chain complex II deficiency, 252011
Publications
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 11:32 a.m. | Last Modified: 8 Mar 2022, 11:32 a.m.
Panel Version: 1.67
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
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. Gene Symbol submitted: SDHD; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:31 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: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Two unrelated cases reported (three different variants) with functional evidence.Created: 10 May 2019, 10:44 a.m.
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 Amber
- MetBioNet
- 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
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Sarcoma cancer susceptibility
- Inherited predisposition to GIST
- Inherited renal cancer
- Inherited white matter disorders
- Genodermatoses with malignancies
- Fetal anomalies
- Likely inborn error of metabolism
- Adult solid tumours for rare disease
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorders
- Sarcoma susceptibility
- White matter disorders and cerebral calcification - narrow panel
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Monogenic hearing loss
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Inherited non-medullary thyroid cancer
- Possible mitochondrial disorder - nuclear genes
- Neuroendocrine cancer pertinent cancer susceptibility
History Filter Activity
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Amber was added to SDHD. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: SDHD was added gene: SDHD was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: SDHD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHD were set to 26008905; 24367056 Phenotypes for gene: SDHD were set to Mitochondrial respiratory chain complex II deficiency, 252011