Dilated Cardiomyopathy and conduction defects

Gene: SDHA

Red List (low evidence)

SDHA (succinate dehydrogenase complex flavoprotein subunit A)
EnsemblGeneIds (GRCh38): ENSG00000073578
EnsemblGeneIds (GRCh37): ENSG00000073578
OMIM: 600857, Gene2Phenotype
SDHA is in 27 panels

2 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

Cardiomyopathy, dilated, 1GG OMIM#613642; Leigh syndrome OMIM256000; Mitochondrial respiratory chain complex II deficiency OMIM#252011;Paragangliomas 5 OMIM#614165
Created: 25 Mar 2019, 4:30 p.m.
Alston (J Med Genet 2012;49:569577. doi:10.1136/jmedgenet-2012-101146) reported a case of DCM and leukodystrophy in a patient compound heterozygous for variants in this gene. Levitas (2010 European Journal of Human Genetics (2010) 18, 11601165; doi:10.1038/ejhg.2010.83; published online 16 June 2010) This is a more early onset recessive, mitochondrial gene. Homozygosity for a specific variant G555E in dilated cardiomyopathy in specific populations including in 2010 the Bedouin population - 15 cases of paediatric cardiomyopathy - variant p.Gly555Glu has only one allele on GnomAD. This variant was also described in other populations assoc with DCM including Pagnamenta Mol Genet Metab. 2006 Nov;89(3):214-21. Epub 2006 Jun 23 and Van Coster Am J Med Genet A. 2003 Jul 1;120A(1):13-8.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to SDHA. Mode of inheritance for gene SDHA was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

14 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SDHA was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Expert list

14 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SDHA was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Expert list