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 1.2

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 1.25

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

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


Version 1.219
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Mitochondrial respiratory chain complex II deficiency, OMIM:252011
    Tags
    • Q2_21_rating

    Green SDHA in Inherited predisposition to GIST


    Version 1.11
    Latest signed off version: v1.2 (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 1.9

    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 1.19
    Latest signed off version: v1.4 (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 1.74

    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 1.26

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

    Green SDHA in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.149

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mitochondrial respiratory chain complex II deficiency, OMIM: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 2.14
    Latest signed off version: v2.2 (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 2.51
    Latest signed off version: v2.2 (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
    Latest signed off version: v1.2 (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 1.500

    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 2.202
    Latest signed off version: v2.3 (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 1.60
    Latest signed off version: v1.17 (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 1.816
    Latest signed off version: v1.92 (21 Aug 2020)

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

    Green SDHA in DDG2P


    Version 2.53
    Latest signed off version: v2.2 (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 2.474
    Latest signed off version: v2.2 (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 3.1470
    Latest signed off version: v3.2 (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 2.63
    Latest signed off version: v2.4 (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 1.159
    Latest signed off version: v1.121 (5 Aug 2021)

    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
    Latest signed off version: v1.2 (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 1.59
    Latest signed off version: v1.4 (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 1.203
    Latest signed off version: v1.137 (5 Aug 2021)

    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 1.92

    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