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  3. GAMT
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GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH

Gene: GAMT

Red List (low evidence)
GAMT (guanidinoacetate N-methyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000130005
EnsemblGeneIds (GRCh37): ENSG00000130005
OMIM: 601240, Gene2Phenotype
GAMT is in 10 panels

1 review

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

Increased muscle tone and movement disorder can be a feature. But will present with developmental delay/seizures.
Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: 0.10

History Filter Activity

9 Jul 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene GAMT was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cerebral creatine deficiency syndrome 2, 612736 for gene: GAMT

2 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to GAMT.

2 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: GAMT was added gene: GAMT was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: GAMT was set to