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  3. GAMT
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Cerebral Palsy

Gene: GAMT

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

1 review

Clare van Eyk (University of Adelaide)

I don't know

1 individual reported with CP and biallelic variants (missense and stopgain) in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Cerebral creatine deficiency syndrome 2 is associated with prominent movement disturbances and can be initially diagnosed as CP (PMID: 31380813).
Sources: Literature
Created: 13 Jun 2024, 5:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebral creatine deficiency syndrome 2, MIM#612736

Publications

Created: 13 Jun 2024, 5:14 a.m.

Panel version: 1.281

History Filter Activity

13 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gamt has been classified as Red List (Low Evidence).

13 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gamt has been classified as Red List (Low Evidence).

13 Jun 2024, Gel status: 0

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

Clare van Eyk (University of Adelaide)

gene: GAMT was added gene: GAMT was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAMT were set to PMID: 38693247 Phenotypes for gene: GAMT were set to Cerebral creatine deficiency syndrome 2, MIM#612736 Review for gene: GAMT was set to AMBER