SUCLG1

succinate-CoA ligase alpha subunit
OMIM: 611224, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Red SUCLG1 in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.8

review Not set
Sources
  • Emory Genetics Laboratory

Green SUCLG1 in Structural basal ganglia disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.17

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

Green SUCLG1 in Mitochondrial DNA maintenance disorder


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 DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400

Green SUCLG1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.431

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),245400
  • Mitochondrial DNA Depletion Syndrome

Green SUCLG1 in Inborn errors of metabolism


Version 2.33
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
    • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
    • Mitochondrial DNA Depletion Syndrome
    • Disorders of mitochondrial DNA maintenance and integrity
    • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),245400

    Green SUCLG1 in Possible mitochondrial disorder - nuclear genes


    Version 1.21
    Signed off v.1.17 on 11 Nov 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400

    Green SUCLG1 in Fetal anomalies


    Version 1.115
    Signed off v.1.92 on 21 Aug 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • FATAL INFANTILE LACTIC ACIDOSIS

    Green SUCLG1 in DDG2P


    Version 2.12
    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
    • FATAL INFANTILE LACTIC ACIDOSIS 308078

    Amber SUCLG1 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.224
    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
    • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400
    Tags
    • watchlist

    Green SUCLG1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.565
    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
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • FATAL INFANTILE LACTIC ACIDOSIS

    Green SUCLG1 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.12
    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
    • Victorian Clinical Genetics Services
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Expert
    Phenotypes
    • Disorders of mitochondrial DNA maintenance and integrity
    • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),245400
    • Mitochondrial DNA Depletion Syndrome

    Red SUCLG1 in Adult onset movement disorder


    Version 1.16
    Signed off v.1.14 on 15 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400

    Red SUCLG1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.64
    Signed off v.1.58 on 6 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400

    Green SUCLG1 in Severe Paediatric Disorders


    Version 1.19

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400