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Prepair 1000+

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

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

GAMT deficiency is a creatine deficiency disorder and an inborn error of metabolism presenting with progressive intellectual and neurological deterioration (PMID: 33996490). Onset in infancy.
Clinical and biochemical symptoms improved with treatment (OMIM)
Created: 19 Nov 2024, 4:43 a.m. | Last Modified: 19 Nov 2024, 4:43 a.m.
Panel Version: 1.553

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebral creatine deficiency syndrome 2 (MIM#612736)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cerebral creatine deficiency syndrome 2, 612736 (3)
OMIM
601240
Clinvar variants
Variants in GAMT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

28 Nov 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: GAMT were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Cerebral creatine deficiency syndrome 2, 612736 (3) for gene: GAMT

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GAMT was added gene: GAMT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GAMT were set to Cerebral creatine deficiency syndrome 2, 612736 (3)