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Aminoacidopathy

Gene: GAMT

Green List (high evidence)
GAMT (guanidinoacetate N-methyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000130005
EnsemblGeneIds (GRCh37): ENSG00000130005
OMIM: 601240, Gene2Phenotype
GAMT is in 13 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified Definitive by ClinGen Aminoacidopathy GCEP on 25/01/2019 - https://search.clinicalgenome.org/CCID:004917

Well established gene-disease association.
Reported as an inborn error of creatine metabolism.
The two most commonly reported variants are p.Trp20Ser (c.59G>C) and c.327G>A (p.Lys109=). Both variants are pathogenic on ClinVar (>2 stars) and is classified pathogenic by the ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel (FDA recognised database).
Sources: ClinGen
Created: 24 May 2024, 2:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
guanidinoacetate methyltransferase deficiency MONDO:0012999

Publications

Created: 24 May 2024, 2:10 a.m.

Panel version: 1.18

History Filter Activity

24 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 May 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: GAMT was added gene: GAMT was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAMT were set to 20301745; 17466557; 16293431; 12701824; 2441567 Phenotypes for gene: GAMT were set to guanidinoacetate methyltransferase deficiency MONDO:0012999 Review for gene: GAMT was set to GREEN