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  2. Miscellaneous Metabolic Disorders
  3. GNMT
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Miscellaneous Metabolic Disorders

Gene: GNMT

Green List (high evidence)
GNMT (glycine N-methyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000124713
EnsemblGeneIds (GRCh37): ENSG00000124713
OMIM: 606628, Gene2Phenotype
GNMT is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Only 5 cases in 4 families reported thus far, and a supporting null mouse model. The clinical presentation of the reported cases (mild hepatomegaly and chronic elevation of the transaminase levels in the blood without liver disease) suggests a benign disorder, however hypermethioninemia is a reported risk factor for various neurological complications regardless of the cause.
Sources: NHS GMS
Created: 4 Feb 2021, 10:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycine N-methyltransferase deficiency MIM#606664; Disorders of the metabolism of sulphur amino acids

Publications

Created: 4 Feb 2021, 10:33 p.m.

Panel version: 0.174

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Glycine N-methyltransferase deficiency MIM#606664
  • Disorders of the metabolism of sulphur amino acids
OMIM
606628
Clinvar variants
Variants in GNMT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

4 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

4 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GNMT was added gene: GNMT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GNMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNMT were set to 11810299; 14739680; 17937387; 27207470 Phenotypes for gene: GNMT were set to Glycine N-methyltransferase deficiency MIM#606664; Disorders of the metabolism of sulphur amino acids Review for gene: GNMT was set to GREEN