GAMT

guanidinoacetate N-methyltransferase
OMIM: 601240, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Red GAMT in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.89

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia

Red GAMT in Neurodegenerative disorders - adult onset


Version 2.200
Latest signed off version: v2.178 (5 Aug 2021)

review Unknown
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Red
Phenotypes
  • Dystonia

Green GAMT in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.486

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Guanidinoacetate methyltransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism)
  • Intellectual disability

Green GAMT in Inborn errors of metabolism


Version 2.187
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
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Cerebral creatine deficiency syndrome 2 612736

    Red GAMT in Fetal anomalies


    Version 1.728
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY

    Green GAMT in DDG2P


    Version 2.49
    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
    • GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY 612736

    Green GAMT in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.448
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Expert
    Phenotypes
    • Cerebral creatine deficiency syndrome 2, 612736
    • Seizures
    • Deficiency of guanidinoacetate methyltransferase
    • GAMT deficiency

    Green GAMT in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1367
    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
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Cerebral creatine deficiency syndrome 2, 612736
    • GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY (GAMT DEFICIENCY)

    Red GAMT in Adult onset movement disorder


    Version 1.123
    Latest signed off version: v1.121 (5 Aug 2021)

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Cerebral creatine deficiency syndrome 2, 612736
    • Dystonia

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


    Version 1.157
    Latest signed off version: v1.137 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Cerebral creatine deficiency syndrome 2, 612736

    Green GAMT in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cerebral creatine deficiency syndrome 2, 612736