Miscellaneous Metabolic Disorders
Gene: GNMT
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 GMSCreated: 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
Gene: gnmt has been classified as Green List (High Evidence).
Gene: gnmt has been classified as Green List (High Evidence).
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