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Molecular autopsy

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

1 review

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: 0.86

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London South GLH
  • Expert Review Green
Phenotypes
  • Leigh syndrome, 256000
  • Paragangliomas 5, 614165
  • Cardiomyopathy, dilated, 1GG, 613642
  • Isolated complex II deficiency
  • Mitochondrial respiratory chain complex II deficiency, 252011
  • Cardiomyopathy, dilated, 1GG
  • Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Mitochondrial Respiratory Chain Complex II Deficiency
OMIM
600857
Clinvar variants
Variants in SDHA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to SDHA.

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Paragangliomas 5, 614165; Leigh syndrome, 256000; Cardiomyopathy, dilated, 1GG, 613642; Isolated complex II deficiency; Mitochondrial respiratory chain complex II deficiency, 252011; Mitochondrial Respiratory Chain Complex II Deficiency for gene: SDHA

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Paragangliomas 5, 614165; Leigh syndrome, 256000; Cardiomyopathy, dilated, 1GG, 613642; Isolated complex II deficiency; Mitochondrial respiratory chain complex II deficiency, 252011; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Respiratory Chain Complex II Deficiency for gene: SDHA

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: SDHA was added gene: SDHA was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHA were set to 27604308 Phenotypes for gene: SDHA were set to Leigh syndrome, 256000; Paragangliomas 5, 614165; Cardiomyopathy, dilated, 1GG, 613642; Isolated complex II deficiency; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Respiratory Chain Complex II Deficiency