Likely inborn error of metabolism - targeted testing not possible
Gene: GAMTComment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in 4 unrelated cases.Created: 13 Aug 2019, 4 p.m. | Last Modified: 13 Aug 2019, 4 p.m.
Panel Version: 1.131
Comment on phenotypes: Intellectual disability;Guanidinoacetate methyltransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism)Created: 13 Aug 2019, 3:54 p.m. | Last Modified: 13 Aug 2019, 3:54 p.m.
Panel Version: 1.129
Well established as a cause for intellectual disability but may also be tested for under metabolic disorders due to biochemical creatine deficiencyCreated: 21 Dec 2018, 3:19 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Creatine deficiency
Gene: gamt has been classified as Green List (High Evidence).
Publications for gene: GAMT were set to 27604308
Phenotypes for gene: GAMT were changed from Intellectual disability; Guanidinoacetate methyltransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism) to Cerebral creatine deficiency syndrome 2 612736
Source NHS GMS was added to GAMT. Source London North GLH was added to GAMT.
Sarah Leigh: Associated with relevant pheno
gene: GAMT was added gene: GAMT was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAMT were set to 27604308 Phenotypes for gene: GAMT were set to Intellectual disability; Guanidinoacetate methyltransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism)