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Early onset or syndromic epilepsy v2.81 AGMO Rebecca Foulger changed review comment from: PMID:31555905. Okur et al., report rare nonsense in-frame deletion and missense compound heterozygous variants in AGMO in 2 unrelated individuals- an 8 year old European girl, and 4-year old Ashkenazi Jewish boy. The girl had variants p.Trp130Ter & p.Gly238Cys. The boy had variants p.Gly144Arg and p.Tyr236del. Note that there is one individual in gnomAD who is homozygous for the p.Gly144Arg variant. Table 1 also mentions 'MTHFR C677T homozygous' for the boy, but this is not referred to within the text. The authors demonstrated significantly diminished enzyme activity for all disease-associated variants. Seizures were reported for the girl with generalized tonic-clonic seizures beginning age 2 months (and controlled with medication). Seizures were not reported for the boy, though he has a nephew with epilepsy.; to: PMID:31555905. Okur et al., report rare nonsense in-frame deletion and missense compound heterozygous variants in AGMO in 2 unrelated individuals- an 8 year old European girl, and 4-year old Ashkenazi Jewish boy. The girl harboured variants p.Trp130Ter & p.Gly238Cys. The boy harboured variants p.Gly144Arg and p.Tyr236del. Note that there is one individual in gnomAD who is homozygous for the p.Gly144Arg variant. Table 1 also mentions 'MTHFR C677T homozygous' for the boy, but this is not referred to within the text. The authors demonstrated significantly diminished enzyme activity for all disease-associated variants. Seizures were reported for the girl with generalized tonic-clonic seizures beginning age 2 months (and controlled with medication). Seizures were not reported for the boy, though he has a nephew with epilepsy.
Early onset or syndromic epilepsy v2.81 AGMO Rebecca Foulger changed review comment from: PMID:31555905. Okur et al., report rare nonsense in-frame deletion and missense compound heterozygous variants in AGMO in 2 unrelated individuals- an 8 year old European girl, and 4-year old Ashkenazi Jewish boy. They demonstrated significantly diminished enzyme activity for all disease-associated variants. Seizures were reported for the girl with generalized tonic-clonic seizures beginning age 2 months (and controlled with medication). Seizures were not reported for the boy, though he has a nephew with epilepsy.; to: PMID:31555905. Okur et al., report rare nonsense in-frame deletion and missense compound heterozygous variants in AGMO in 2 unrelated individuals- an 8 year old European girl, and 4-year old Ashkenazi Jewish boy. The girl had variants p.Trp130Ter & p.Gly238Cys. The boy had variants p.Gly144Arg and p.Tyr236del. Note that there is one individual in gnomAD who is homozygous for the p.Gly144Arg variant. Table 1 also mentions 'MTHFR C677T homozygous' for the boy, but this is not referred to within the text. The authors demonstrated significantly diminished enzyme activity for all disease-associated variants. Seizures were reported for the girl with generalized tonic-clonic seizures beginning age 2 months (and controlled with medication). Seizures were not reported for the boy, though he has a nephew with epilepsy.
Early onset or syndromic epilepsy v1.191 MTHFR Rebecca Foulger Source Wessex and West Midlands GLH was added to MTHFR.
Early onset or syndromic epilepsy v1.190 MTHFR Rebecca Foulger Source NHS GMS was added to MTHFR.
Early onset or syndromic epilepsy v1.189 MTHFR Rebecca Foulger reviewed gene: MTHFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 MTHFR Tracy Lester reviewed gene: MTHFR: Rating: GREEN; Mode of pathogenicity: ; Publications: 3580562, 29391032 ; Phenotypes: Homocystinuria due to MTHFR deficiency, 236250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1371 MTHFR Louise Daugherty Marked gene: MTHFR as ready
Early onset or syndromic epilepsy v0.1371 MTHFR Louise Daugherty Gene: mthfr has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1356 MTHFR Louise Daugherty Publications for gene: MTHFR were set to 29391032; 21778025; 12406076; 12840091; 9587029; 30267335; 24556013
Early onset or syndromic epilepsy v0.1323 MTHFR Louise Daugherty Classified gene: MTHFR as Green List (high evidence)
Early onset or syndromic epilepsy v0.1323 MTHFR Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association
Early onset or syndromic epilepsy v0.1323 MTHFR Louise Daugherty Gene: mthfr has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1322 MTHFR Louise Daugherty Added comment: Comment on publications: Added publications to support upgrading of the gene to Green
Early onset or syndromic epilepsy v0.1322 MTHFR Louise Daugherty Publications for gene: MTHFR were set to
Early onset or syndromic epilepsy v0.1318 MTHFR Louise Daugherty Added comment: Comment on mode of inheritance: Added MOI from external clinical review and publications
Early onset or syndromic epilepsy v0.1318 MTHFR Louise Daugherty Mode of inheritance for gene: MTHFR was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1317 MTHFR 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 v0.1317 MTHFR Louise Daugherty Phenotypes for gene: MTHFR were changed from to Homocystinuria due to MTHFR deficiency, 236250; seizures
Early onset or syndromic epilepsy MTHFR Zornitza Stark reviewed gene: MTHFR
Early onset or syndromic epilepsy MTHFR Sarah Leigh Added gene to panel