GATM

glycine amidinotransferase
OMIM: 602360, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Green GATM in Tubulointerstitial kidney disease


Level 2: Renal
Version 3.35
Latest signed off version: v3.34 (12 Aug 2026)

Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Fanconi renotubular syndrome 1, OMIM:134600
    • Fanconi renotubular syndrome 1, MONDO:0024525
    Green GATM in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.645

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cerebral creatine deficiency syndrome 3, OMIM:612718
    • Arginine:glycine amidinotransferase deficiency
    • Mitochondrial respiratory chain disorders (caused by nuclear variants only)
    • Disorders of creatinine metabolism
    Green GATM in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 9.30
    Latest signed off version: v9.29 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • 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
    • Arginine:glycine amidinotransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism)
    • arginine:glycine amidinotransferase deficiency
    • Cerebral creatine deficiency syndrome 3, 612718
    Red GATM in Possible mitochondrial disorder, nuclear genes


    Level 2: Mitochondrial
    Version 5.18
    Latest signed off version: v5.17 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Cerebral creatine deficiency syndrome 3, OMIM:612718
    Red GATM in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Cerebral creatine deficiency syndrome 3, OMIM:612718
    Green GATM in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY 612718
    Green GATM in Renal tubulopathies


    Level 2: Renal
    Version 6.10
    Latest signed off version: v6.9 (12 Aug 2026)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Fanconi renotubular syndrome 1, OMIM:134600
    Red GATM in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.57
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert
    • Expert Review Red
    Phenotypes
    • Cerebral creatine deficiency syndrome 3, OMIM:612718
    Green GATM in Intellectual disability


    Level 2: Developmental disorders
    Version 11.1
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Cerebral creatine deficiency syndrome 3, OMIM:612718
    Red GATM in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.19
    Latest signed off version: v10.18 (12 Aug 2026)

    Component of the following Super Panels:

  • Leukodystrophy, childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Cerebral creatine deficiency syndrome 3, OMIM:612718
    Red GATM in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH