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BabyScreen+ newborn screening

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

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-established gene-disease association
Onset in infancy
Severity: severe and progressive
Treatment: creatine monohydrate and ornithine supplementation. Arginine restriction.
Non-molecular confirmatory testing: guanidinoacetate, creatine, and creatinine levels in urine and plasma
Created: 13 Oct 2022, 12:27 a.m. | Last Modified: 13 Oct 2022, 12:27 a.m.
Panel Version: 0.541

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebral creatine deficiency syndrome 2, MIM#612736

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BeginNGS
Phenotypes
  • Cerebral creatine deficiency syndrome 2, MIM# 612736
Tags
treatable metabolic
OMIM
601240
Clinvar variants
Variants in GAMT
Penetrance
None
Panels with this gene

History Filter Activity

28 Dec 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag metabolic tag was added to gene: GAMT.

14 Oct 2022, 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).

14 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: GAMT.

18 Sep 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 gNBS. Sources: BeginNGS,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, MIM# 612736