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Cardiomyopathies - including childhood onset

Gene: SDHAF1

Green List (high evidence)

SDHAF1 (succinate dehydrogenase complex assembly factor 1)
EnsemblGeneIds (GRCh38): ENSG00000205138
EnsemblGeneIds (GRCh37): ENSG00000205138
OMIM: 612848, Gene2Phenotype
SDHAF1 is in 16 panels

5 reviews

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Red List (low evidence)

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)

Green List (high evidence)

Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: Multiple unrelated cases with functional studies
Created: 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)

Green List (high evidence)

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)

Green List (high evidence)

History Filter Activity

9 Sep 2019, Gel status: 3

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