1. Genes and Genomic Entities
  2. SUCLG1

SUCLG1

succinate-CoA ligase alpha subunit
OMIM: 611224, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels
Red SUCLG1 in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.21

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 1.39

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Green SUCLG1 in Mitochondrial DNA maintenance disorder


Version 3.6
Latest signed off version: v3.0 (22 Mar 2023)

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 1.617

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 Likely inborn error of metabolism - targeted testing not possible


Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  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 3.105
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • FATAL INFANTILE LACTIC ACIDOSIS
    Green SUCLG1 in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    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 Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.193
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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 4.168
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  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 dystonia, chorea or related movement disorder


    Version 3.18
    Latest signed off version: v3.12 (31 Jul 2023)

    		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, chorea or related movement disorder


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 1.184

    		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
    Red SUCLG1 in Paediatric pseudo-obstruction syndrome


    Version 1.5
    Latest signed off version: v1.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), OMIM:245400