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| Dilated Cardiomyopathy and conduction defects v1.55 | SDHA | Rebecca Whittington commented on gene: SDHA: Cardiomyopathy, dilated, 1GG OMIM#613642; Leigh syndrome OMIM256000; Mitochondrial respiratory chain complex II deficiency OMIM#252011;Paragangliomas 5 OMIM#614165 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.54 | SDHA | Rebecca Whittington commented on gene: SDHA: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.53 | SDHA | Rebecca Whittington reviewed gene: SDHA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.47 | SDHA |
Ellen McDonagh 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 |
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