Likely inborn error of metabolism
Gene: GNMT

GNMT (glycine N-methyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000124713
EnsemblGeneIds (GRCh37): ENSG00000124713
OMIM: 606628, Gene2Phenotype
GNMT is in 3 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

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