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Genetic epilepsy syndromes

Gene: AMT

Green List (high evidence)

AMT (aminomethyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000145020
EnsemblGeneIds (GRCh37): ENSG00000145020
OMIM: 238310, Gene2Phenotype
AMT is in 9 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR Glycine encephalopathy - neonatal and infantile forms associated with seizures but not the mild or late-onset forms. With neonatal form may not survive to point of developing seizures. (This gene encodes the T protein). Swanson et al, 2015 - reviewed 124 patients with severe nonketotic hyperglycinemia (disorder characterised by intellectual disability, seizures and spasticity) - found 18 novel mutations in AMT - RNA splicing used to show retention of intronic sequence for 1 intronic variant, expression atudies done on some missense variants - support pathogenicity. Coughlin et al, 2017 - reveiwng families with classic nonketotic hyperglycinemia - 578 families - 410 unique mutations - 80% in GLDC. missense mutations most often recurring (R320H seen in 16% of cases)- most common type of disease-causing mutation in AMT.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycine encephalopathy, 605899

Publications

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Glycine encephalopathy 605899
Created: 17 Jul 2018, 9:42 a.m.
Comment on list classification: Based on review by Dr Arianna Tucci (Genomics England Clinical Fellow and Curator)
Created: 17 Jul 2018, 9:40 a.m.

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Associated with Glycine encephalopathy in OMIM, and epilepsy is part of the phenotype
Created: 5 Jul 2018, 2:06 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycine encephalopathy 605899

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycine encephalopathy 605899
OMIM
238310
Clinvar variants
Variants in AMT
Penetrance
None
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to AMT.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to AMT.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Arianna Tucci: Associated with Glycine enceph

17 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

17 Jul 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: AMT were set to Glycine encephalopathy 605899

17 Jul 2018, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: AMT was changed from to BIALLELIC, autosomal or pseudoautosomal

17 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to AMT. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

AMT was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

AMT was created by Sarah Leigh