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Early onset or syndromic epilepsy v1.191 MMACHC Rebecca Foulger Source Wessex and West Midlands GLH was added to MMACHC.
Early onset or syndromic epilepsy v1.190 MMACHC Rebecca Foulger Source NHS GMS was added to MMACHC.
Early onset or syndromic epilepsy v1.189 MMACHC Rebecca Foulger edited their review of gene: MMACHC: Added comment: 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. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 MMACHC Tracy Lester reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: ; Publications: 26283149, 29068997 , 16311595, 21748408; Phenotypes: Methylmalonic aciduria and homocystinuria, cblC type, 277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1320 MMACHC Rebecca Foulger Marked gene: MMACHC as ready
Early onset or syndromic epilepsy v0.1320 MMACHC Rebecca Foulger Gene: mmachc has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1309 MMACHC Rebecca Foulger Publications for gene: MMACHC were set to
Early onset or syndromic epilepsy v0.1308 MMACHC Rebecca Foulger Marked gene: MMACHC as ready
Early onset or syndromic epilepsy v0.1308 MMACHC Rebecca Foulger Gene: mmachc has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1308 MMACHC Rebecca Foulger Classified gene: MMACHC as Green List (high evidence)
Early onset or syndromic epilepsy v0.1308 MMACHC Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green review by Zornitza plus sufficient (>3) cases of cblC disease patients with MMACHC variants and seizures from PMIDs 17431913 and 20924684).
Early onset or syndromic epilepsy v0.1308 MMACHC Rebecca Foulger Gene: mmachc has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1307 MMACHC Rebecca Foulger commented on gene: MMACHC: PMID:20924684 (Wang et al, 2010) report 43 patients with combined methylmalonic acidemia and hyperhomocysteinemia (cblC type), 50% of which presented with seizures. Homozygous MMACHC variants are listed in Table 4.
Early onset or syndromic epilepsy v0.1296 MMACHC Rebecca Foulger commented on gene: MMACHC
Early onset or syndromic epilepsy v0.1292 MMACHC Rebecca Foulger Mode of inheritance for gene: MMACHC was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1291 MMACHC Rebecca Foulger Phenotypes for gene: MMACHC were changed from to Methylmalonic aciduria and homocystinuria, cblC type, 277400
Early onset or syndromic epilepsy MMACHC Zornitza Stark reviewed gene: MMACHC
Early onset or syndromic epilepsy MMACHC Sarah Leigh Added gene to panel