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Early onset or syndromic epilepsy v1.448 MTR Rebecca Foulger Classified gene: MTR as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.448 MTR Rebecca Foulger Gene: mtr has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.447 MTR Rebecca Foulger commented on gene: MTR: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call 22nd November 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is insufficient evidence to rate this gene Green. Metabolic phenotype with failure to thrive, with seizures presenting later. Better tested through the metabolic panel. Demoted from Green to Amber.
Early onset or syndromic epilepsy v1.417 MTR Rebecca Foulger commented on gene: MTR: PMID:28666289 (Komulainen-Ebrahim et al., 2017) describe a homozygous MTR p.P1173L variant in a patient with drug-resistant seizures associated with hyperhomocysteinemia and hypomethioninemia.
Early onset or syndromic epilepsy v1.417 MTR Rebecca Foulger commented on gene: MTR: PMID:9683607 (Wilson et al., 1998) report 3 cblG patients, including 2 siblings who presented with neonatal seizures.
Early onset or syndromic epilepsy v1.417 MTR Rebecca Foulger commented on gene: MTR: PMID:25526710 (Huemer et al., 2015) summarise clinical features of 13 patients with the cblG defect (caused by defects in MTR): 5/13 had seizures.
Early onset or syndromic epilepsy v1.191 MTR Rebecca Foulger Source Wessex and West Midlands GLH was added to MTR.
Early onset or syndromic epilepsy v1.190 MTR Rebecca Foulger Source NHS GMS was added to MTR.
Early onset or syndromic epilepsy v1.189 MTR Rebecca Foulger reviewed gene: MTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 MTR Tracy Lester reviewed gene: MTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1371 MTR Louise Daugherty Marked gene: MTR as ready
Early onset or syndromic epilepsy v0.1371 MTR Louise Daugherty Gene: mtr has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1361 MTR Louise Daugherty Classified gene: MTR as Green List (high evidence)
Early onset or syndromic epilepsy v0.1361 MTR Louise Daugherty Gene: mtr has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1360 MTR Louise Daugherty Publications for gene: MTR were set to 9453374; 12068375; 9683607; 28666289
Early onset or syndromic epilepsy v0.1359 MTR Louise Daugherty Publications for gene: MTR were set to 12068375; 9683607; 28666289
Early onset or syndromic epilepsy v0.1358 MTR Louise Daugherty Classified gene: MTR as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1358 MTR Louise Daugherty Added comment: Comment on list classification: Not enough evidence to date to rate this gene green, kept this gene Amber on this panel until further evidence.
Early onset or syndromic epilepsy v0.1358 MTR Louise Daugherty Gene: mtr has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1357 MTR Louise Daugherty Added comment: Comment on publications: added publication to support gene-disease association
Early onset or syndromic epilepsy v0.1357 MTR Louise Daugherty Publications for gene: MTR were set to
Early onset or syndromic epilepsy v0.1350 MTR Louise Daugherty Phenotypes for gene: MTR were changed from Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; seizures to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; methionine synthase deficiency type cblG; seizures
Early onset or syndromic epilepsy v0.1349 MTR Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
Early onset or syndromic epilepsy v0.1349 MTR Louise Daugherty Phenotypes for gene: MTR were changed from to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; seizures
Early onset or syndromic epilepsy v0.1348 MTR Louise Daugherty Mode of inheritance for gene: MTR was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy MTR Zornitza Stark reviewed gene: MTR
Early onset or syndromic epilepsy MTR Sarah Leigh Added gene to panel