Paediatric or syndromic cardiomyopathy
Gene: SDHAF1EnsemblGeneIds (GRCh38): ENSG00000205138
EnsemblGeneIds (GRCh37): ENSG00000205138
OMIM: 612848, Gene2Phenotype
SDHAF1 is in 15 panels
5 reviews
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
None of the literature describes cardiac involvement, and a cardiomyopathy (even if present) is not going to be presenting feature (key symptom is leukoencephalopathy). Not appropriate for this panel.Created: 26 Nov 2019, 5:16 p.m. | Last Modified: 26 Nov 2019, 5:19 p.m.
Panel Version: 0.13
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OMIM 252011 Mitochondrial complex II deficiency
Publications
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. At least 3 families reported.Created: 10 May 2019, 10:36 a.m.
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: Multiple 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: SDHAF1; 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
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
- 612848
- Clinvar variants
- Variants in SDHAF1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- DDG2P
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Early onset dystonia
- Possible mitochondrial disorder - nuclear genes
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Mitochondrial disorder with complex II deficiency
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Amber was added to SDHAF1. 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: SDHAF1 was added gene: SDHAF1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHAF1 were set to 22995659; 26642834; 19465911 Phenotypes for gene: SDHAF1 were set to Mitochondrial respiratory chain complex II deficiency, 252011