SDHA

succinate dehydrogenase complex flavoprotein subunit A
OMIM: 600857, Gene2Phenotype

27 panels

Panel Reviews Mode of inheritance Details
27 panels

Red SDHA in Left Ventricular Noncompaction Cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.4

review Not set
Sources
  • Expert Review Red
  • Expert list

Green SDHA in Neuroendocrine cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neuroendocrine cancer

Green SDHA in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.22

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • gastrointestinal stromal tumors

Red SDHA in White matter disorders and cerebral calcification - narrow panel


Version 1.38
Signed off v.1.12 on 2 Mar 2020

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Mitochondrial respiratory chain complex II deficiency, MIM#252011

    Green SDHA in Inherited predisposition to GIST


    Version 1.11
    Signed off v.1.2 on 4 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert List
    Phenotypes
    • Gastrointestinal stromal tumours

    Green SDHA in Inherited phaeochromocytoma and paraganglioma

    Level 3: Breast and endocrine
    Level 2: Tumour syndromes
    Version 1.6

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Leigh syndrome, 256000Mitochondrial respiratory chain complex II deficiency, 252011Cardiomyopathy, dilated, 1GG, 613642Paragangliomas 5, 614165
    • Hereditary Paraganglioma-Pheochromocytoma Syndrome

    Green SDHA in Inherited phaeochromocytoma and paraganglioma excluding NF1


    Version 1.15
    Signed off v.1.4 on 11 Nov 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Hereditary Paraganglioma-Pheochromocytoma Syndrome
    • Leigh syndrome, 256000Mitochondrial respiratory chain complex II deficiency, 252011Cardiomyopathy, dilated, 1GG, 613642Paragangliomas 5, 614165

    Red SDHA in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.68

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • Expert list
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Cardiomyopathy, dilated, 1GG

    Green SDHA in Structural basal ganglia disorders

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.18

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature

    Red SDHA in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.87

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Mitochondrial respiratory chain complex II deficiency, MIM#252011

    Amber SDHA in Sarcoma cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.20

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert List

    Green SDHA in Adult solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.9
    Signed off v.2.2 on 18 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • gastrointestinal stromal tumors

    Red SDHA in Optic neuropathy

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.38
    Signed off v.2.2 on 19 Feb 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Leigh syndrome, 256000
    • mitochondrial respiratory chain complex II deficiency 252011

    Green SDHA in Mitochondrial disorder with complex II deficiency


    Version 1.3
    Signed off v.1.2 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial respiratory chain complex II deficiency, 252011
    • Leigh syndrome, 256000

    Green SDHA in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.452

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
    • Isolated complex II deficiency
    • Leigh syndrome, 256000
    • Mitochondrial respiratory chain complex II deficiency, 252011
    • Cardiomyopathy, dilated, 1GG, 613642
    • Paragangliomas 5, 614165
    • Mitochondrial Respiratory Chain Complex II Deficiency

    Green SDHA in Inborn errors of metabolism


    Version 2.111
    Signed off v.2.3 on 17 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • 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
    • Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
    • Mitochondrial Respiratory Chain Complex II Deficiency

    Green SDHA in Possible mitochondrial disorder - nuclear genes


    Version 1.40
    Signed off v.1.17 on 11 Nov 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial respiratory chain complex II deficiency, 252011
    • Leigh syndrome, 256000

    Red SDHA in Fetal anomalies


    Version 1.641
    Signed off v.1.92 on 21 Aug 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • LEIGH SYNDROME

    Green SDHA in DDG2P


    Version 2.25
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • LEIGH SYNDROME 256000

    Amber SDHA in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.323
    Signed off v.2.2 on 13 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Leigh syndrome 256000
    • Mitochondrial respiratory chain complex II deficiency 252011

    Green SDHA in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1018
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Leigh syndrome, 256000Mitochondrial respiratory chain complex II deficiency, 252011Cardiomyopathy, dilated, 1GG, 613642Paragangliomas 5, 614165
    • LEIGH SYNDROME (NUCLEAR DNA MUTATION)

    Green SDHA in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.24
    Signed off v.2.4 on 17 Feb 2020

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Expert
    Phenotypes
    • Isolated complex II deficiency
    • Leigh syndrome, 256000
    • Mitochondrial respiratory chain complex II deficiency, 252011
    • Cardiomyopathy, dilated, 1GG, 613642
    • Paragangliomas 5, 614165
    • Mitochondrial Respiratory Chain Complex II Deficiency

    Red SDHA in Adult onset movement disorder


    Version 1.113
    Signed off v.1.14 on 15 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • Cardiomyopathy, dilated, 1GG, 613642
    • Leigh syndrome, 256000
    • Mitochondrial respiratory chain complex II deficiency, 252011

    Amber SDHA in Sarcoma susceptibility


    Version 1.69
    Signed off v.1.2 on 18 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Amber
    • Expert Review Amber
    • Expert List

    Green SDHA in Cardiomyopathies - including childhood onset


    Version 1.30
    Signed off v.1.4 on 19 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • Expert Review Green
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Paragangliomas 5, 614165
    • Cardiomyopathy, dilated, 1GG, 613642
    • Mitochondrial Respiratory Chain Complex II Deficiency
    • Leigh syndrome, 256000
    • Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
    • Mitochondrial respiratory chain complex II deficiency, 252011
    • Isolated complex II deficiency
    • Cardiomyopathy, dilated, 1GG

    Red SDHA in Childhood onset dystonia or chorea or related movement disorder


    Version 1.90
    Signed off v.1.58 on 6 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Leigh syndrome, 256000
    • Mitochondrial respiratory chain complex II deficiency, 252011
    • Cardiomyopathy, dilated, 1GG, 613642

    Green SDHA in Severe Paediatric Disorders


    Version 1.75

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Paragangliomas 5, 614165
    • Leigh syndrome, 256000
    • Mitochondrial respiratory chain complex II deficiency, 252011
    • Cardiomyopathy, dilated, 1GG, 613642