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Possible mitochondrial disorder - nuclear genes

Gene: SDHA

Green List (high evidence)

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

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial respiratory chain complex II deficiency, 252011; Leigh syndrome, 256000

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 10 Feb 2016, 9:37 a.m.
Comment on list classification: Confirmed DD gene for Leigh Syndrome, and reviewer suggests this should be promoted from amber.
Created: 10 Feb 2016, 9:36 a.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

History Filter Activity

4 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: SDHA was added gene: SDHA was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDHA were set to Mitochondrial respiratory chain complex II deficiency, 252011; Leigh syndrome, 256000