Aminoacidopathy
Gene: GNMT
GNMT (glycine N-methyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000124713
EnsemblGeneIds (GRCh37): ENSG00000124713
OMIM: 606628, Gene2Phenotype
GNMT is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000124713
EnsemblGeneIds (GRCh37): ENSG00000124713
OMIM: 606628, Gene2Phenotype
GNMT is in 3 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Classified Limited by ClinGen Aminoacidopathy GCEP on 12/12/2022 -https://search.clinicalgenome.org/CCID:004979
Sources: ClinGenCreated: 6 Jun 2024, 5:12 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
glycine N-methyltransferase deficiency MONDO:0011698
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- glycine N-methyltransferase deficiency MONDO:0011698
- OMIM
- 606628
- Clinvar variants
- Variants in GNMT
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
7 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gnmt has been classified as Red List (Low Evidence).
7 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gnmt has been classified as Red List (Low Evidence).
6 Jun 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: GNMT was added gene: GNMT was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GNMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNMT were set to 11810299; 14739680 Phenotypes for gene: GNMT were set to glycine N-methyltransferase deficiency MONDO:0011698 Review for gene: GNMT was set to RED