Likely inborn error of metabolism - targeted testing not possible
Gene: GNMTComment 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, but not associated with phenotype in Gen2Phen. At least 3 variants reported in 2 unrelated cases, with supportive functional data.Created: 15 Aug 2019, 10:10 a.m. | Last Modified: 15 Aug 2019, 10:10 a.m.
Panel Version: 1.143
Comment 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, but not associated with phenotype in Gen2Phen. At least 3 variants reported in 2 unrelated cases, with supportive functional data.Created: 15 Aug 2019, 10:09 a.m. | Last Modified: 15 Aug 2019, 10:09 a.m.
Panel Version: 1.142
Comment 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, but not associated with phenotype in Gen2Phen. At least 3 variants reported in 2 unrelated cases, with supportive functional data.Created: 15 Aug 2019, 10:09 a.m. | Last Modified: 15 Aug 2019, 10:09 a.m.
Panel Version: 1.142
Gene: gnmt has been classified as Green List (High Evidence).
Phenotypes for gene: GNMT were changed from Glycine N-methyltransferase deficiency to Glycine N-methyltransferase deficiency 606664
Gene: gnmt has been classified as Green List (High Evidence).
Gene: gnmt has been classified as Green List (High Evidence).
Publications for gene: GNMT were set to 27604308; 17660255
Source NHS GMS was added to GNMT. Source London North GLH was added to GNMT.
Sarah Leigh: Associated with relevant pheno
gene: GNMT was added gene: GNMT was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: GNMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNMT were set to 27604308; 17660255 Phenotypes for gene: GNMT were set to Glycine N-methyltransferase deficiency