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Inborn errors of metabolism

Gene: GNMT

Green List (high evidence)

GNMT (glycine N-methyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000124713
EnsemblGeneIds (GRCh37): ENSG00000124713
OMIM: 606628, Gene2Phenotype
GNMT is in 4 panels

1 review

Sarah Leigh (Genomics England Curator)

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, 10:10 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Glycine N-methyltransferase deficiency 606664
OMIM
606628
Clinvar variants
Variants in GNMT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: gnmt has been classified as Green List (High Evidence).

15 Aug 2019, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GNMT were changed from Glycine N-methyltransferase deficiency to Glycine N-methyltransferase deficiency 606664

15 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: gnmt has been classified as Green List (High Evidence).

15 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: gnmt has been classified as Green List (High Evidence).

15 Aug 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GNMT were set to 27604308; 17660255

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to GNMT. Source London North GLH was added to GNMT.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

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