GAMT

guanidinoacetate N-methyltransferase
OMIM: 601240, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Red GAMT in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.152	review	Not set	Sources Emory Genetics Laboratory Phenotypes Dystonia
Red GAMT in Adult onset neurodegenerative disorder Level 2: Neurology Version 9.1 Latest signed off version: v9.0 (6 May 2026) Component of the following Super Panels: Adult-onset neurological disorders	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 1.645	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 Likely inborn error of metabolism Level 2: Metabolic Version 9.4 Latest signed off version: v9.0 (6 May 2026) 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 Expert Review Green London North GLH NHS GMS Phenotypes Cerebral creatine deficiency syndrome 2 612736
Red GAMT in Fetal anomalies Level 2: Fetal (including NIPD) Version 7.10 Latest signed off version: v7.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY
Green GAMT in DDG2P Version 7.1 Latest signed off version: v7.0 (6 May 2026) 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 Early onset or syndromic epilepsy Level 2: Neurology Version 9.7 Latest signed off version: v9.0 (6 May 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 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 2: Developmental disorders Version 10.17 Latest signed off version: v10.0 (6 May 2026) 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 Radboud University Medical Center, Nijmegen Phenotypes Cerebral creatine deficiency syndrome 2, 612736 GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY (GAMT DEFICIENCY)
Red GAMT in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 6.1 Latest signed off version: v6.0 (6 May 2026) Component of the following Super Panels: Adult-onset neurological disorders	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, chorea or related movement disorder Level 2: Neurology Version 8.3 Latest signed off version: v8.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Expert Review Red London North GLH Phenotypes Cerebral creatine deficiency syndrome 2, 612736