Mitochondrial disorders
Gene: SDHDEnsemblGeneIds (GRCh38): ENSG00000204370
EnsemblGeneIds (GRCh37): ENSG00000204370
OMIM: 602690, Gene2Phenotype
SDHD is in 24 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 unrelated cases with functional studies.
From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex II deficiency (Version 0.16).Created: 23 May 2019, 3:25 p.m.
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
- Expert list
- Expert
- Emory Genetics Laboratory
- Phenotypes
-
- Mitochondrial respiratory chain complex II deficiency 252011
- OMIM
- 602690
- Clinvar variants
- Variants in SDHD
- Penetrance
- Complete
- 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
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: SDHD were changed from Mitochondrial Diseases; Isolated complex II deficiency to Mitochondrial respiratory chain complex II deficiency 252011
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SDHD were set to
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: sdhd has been classified as Green List (High Evidence).
Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to SDHD. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SDHD was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)SDHD was added to All recognised syndromes and those with suggestive featurespanel. Sources: Emory Genetics Laboratory,Expert,Expert list
Added New Source
Ellen McDonagh (Genomics England Curator)SDHD was added to All recognised syndromes and those with suggestive featurespanel. Sources: Emory Genetics Laboratory,Expert,Expert list
Added New Source
Ellen McDonagh (Genomics England Curator)SDHD was added to All recognised syndromes and those with suggestive featurespanel. Sources: Emory Genetics Laboratory,Expert,Expert list