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Inborn errors of metabolism

Gene: GAMT

Green List (high evidence)

GAMT (guanidinoacetate N-methyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000130005
EnsemblGeneIds (GRCh37): ENSG00000130005
OMIM: 601240, Gene2Phenotype
GAMT is in 11 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in 4 unrelated cases.
Created: 13 Aug 2019, 4 p.m. | Last Modified: 13 Aug 2019, 4 p.m.
Panel Version: 1.131
Comment on phenotypes: Intellectual disability;Guanidinoacetate methyltransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism)
Created: 13 Aug 2019, 3:54 p.m. | Last Modified: 13 Aug 2019, 3:54 p.m.
Panel Version: 1.129

Saikat Santra (Birmingham Children's Hospital)

Green List (high evidence)

Well established as a cause for intellectual disability but may also be tested for under metabolic disorders due to biochemical creatine deficiency
Created: 21 Dec 2018, 3:19 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Creatine deficiency

History Filter Activity

13 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: gamt has been classified as Green List (High Evidence).

13 Aug 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GAMT were set to 27604308

13 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GAMT were changed from Intellectual disability; Guanidinoacetate methyltransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism) to Cerebral creatine deficiency syndrome 2 612736

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to GAMT. Source London North GLH was added to GAMT.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: GAMT was added gene: GAMT was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAMT were set to 27604308 Phenotypes for gene: GAMT were set to Intellectual disability; Guanidinoacetate methyltransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism)