Early onset or syndromic epilepsy
Gene: AMT
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
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
Comment on phenotypes: Glycine encephalopathy 605899Created: 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.
Associated with Glycine encephalopathy in OMIM, and epilepsy is part of the phenotypeCreated: 5 Jul 2018, 2:06 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycine encephalopathy 605899
Source Wessex and West Midlands GLH was added to AMT.
Source NHS GMS was added to AMT.
Arianna Tucci: Associated with Glycine enceph
Gene: amt has been classified as Green List (High Evidence).
Phenotypes for gene: AMT were set to Glycine encephalopathy 605899
Mode of inheritance for gene: AMT was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: amt has been classified as Green List (High Evidence).
Expert Review Amber was added to AMT. Panel: Genetic Epilepsy Syndromes
AMT was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
AMT was created by Sarah Leigh