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Likely inborn error of metabolism - targeted testing not possible v1.143 GNMT Sarah Leigh Classified gene: GNMT as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.143 GNMT Sarah Leigh Added comment: 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.
Likely inborn error of metabolism - targeted testing not possible v1.143 GNMT Sarah Leigh Gene: gnmt has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.143 GNMT Sarah Leigh Phenotypes for gene: GNMT were changed from Glycine N-methyltransferase deficiency to Glycine N-methyltransferase deficiency 606664
Likely inborn error of metabolism - targeted testing not possible v1.142 GNMT Sarah Leigh Classified gene: GNMT as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.142 GNMT Sarah Leigh Added comment: 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.
Likely inborn error of metabolism - targeted testing not possible v1.142 GNMT Sarah Leigh Gene: gnmt has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.142 GNMT Sarah Leigh Classified gene: GNMT as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.142 GNMT Sarah Leigh Added comment: 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.
Likely inborn error of metabolism - targeted testing not possible v1.142 GNMT Sarah Leigh Gene: gnmt has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.141 GNMT Sarah Leigh Publications for gene: GNMT were set to 27604308; 17660255
Likely inborn error of metabolism - targeted testing not possible v1.47 GNMT Ivone Leong Source NHS GMS was added to GNMT.
Source London North GLH was added to GNMT.
Likely inborn error of metabolism - targeted testing not possible v0.4 GNMT Ellen McDonagh 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