Dystonia - complex

Gene: GAMT

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Dystonia reported in more than 5 families:

Dhar, et al. (2009, PMID: 19027335) presented 8 non-Portuguese GAMT deficiency cases. Sequencing of GAMT revealed c.402C>G (p.Tyr134*) variant in the compound heterozygous state with c.610_611delAGinsGAA (p.Arg204Glufs*63) variant in one 14 years of age male case (of Egyptian ethnicity) who also experienced dystonia (and showed normal brain MRI).

Modi, et al. (2021, PMID: 33996490) presented a consanguineous family with GAMT deficiency of Pakistani origin. Whole-exome-sequencing revealed homozygous GAMT c.134G>A (p.Trp45*) variant in 2 affected siblings who also had dystonia (age of onset 7 and 8 years, respectively). Sanger sequencing of additional family members revealed the presence of the same variant in 3 healthy family members (parents and sister) and the absence of the variant in a healthy brother.

Schulze, et al. (2003, PMID: 12557293) presented 26 years of age male with GAMT deficiency (whose parents were of Turkish origin). The GAMT sequencing revealed the presence of homozygous c.491dupG (p.Val165Argfs*26) variant in the case who also had dystonia (and normal cranial MRI).

Engelke, et al. (2009, PMID: 19288536) presented 10 cases with GAMT deficiency. The homozygous GAMT c.324delC (p.His108Glnfs*6) has been reported in 4 siblings (age of 18, 23, 26, and 35 years, respectively) who had dystonia.

Mercimek-Mahmutoglu, et al. (2006, PMID: 16855203) presented 27 GAMT deficiency cases. The GAMT variants were present in 3 cases with dystonia from 2 families: 29 years of age female patient and her 24 years of age sister (both of Kosovo origin) who carried homozygous c.64dupG (p.Ala22Glyfs*63) variant; 18 years of age female patient of Spanish origin who carried c.59G>C (p.Trp20Ser) variant in the compound heterozygous state with c.521G>A (p.Trp174*) variant.
Created: 24 Jan 2022, 3:14 a.m. | Last Modified: 24 Jan 2022, 3:14 a.m.
Panel Version: 0.204

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebral creatine deficiency syndrome 2 MIM#612736

Publications

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Dystonia is not a prominent feature of the condition. A single case has been reported with dystonia as part of the phenotype.
Sources: Expert list
Created: 5 Apr 2020, 7:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebral creatine deficiency syndrome 2 MIM#612736

Publications

Details

History Filter Activity

14 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: GAMT.

24 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GAMT were set to 19027335

24 Jan 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).

6 Sep 2020, 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).

5 Apr 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GAMT was added gene: GAMT was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAMT were set to 19027335 Phenotypes for gene: GAMT were set to Cerebral creatine deficiency syndrome 2 MIM#612736 Review for gene: GAMT was set to RED