Activity

Filter

Cancel
Date Panel Item Activity
18 actions
Early onset or syndromic epilepsy v2.251 TBCD Arina Puzriakova Phenotypes for gene: TBCD were changed from Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193; seizures; West syndrome to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193; Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646
Early onset or syndromic epilepsy v1.191 TBCD Rebecca Foulger Source Wessex and West Midlands GLH was added to TBCD.
Early onset or syndromic epilepsy v1.190 TBCD Rebecca Foulger Source NHS GMS was added to TBCD.
Early onset or syndromic epilepsy v1.189 TBCD Rebecca Foulger edited their review of gene: TBCD: 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 and Helen Lord. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 TBCD Tracy Lester reviewed gene: TBCD: Rating: GREEN; Mode of pathogenicity: ; Publications: 28158450, 27666370; Phenotypes: Encephalopathy progressive early-onset with brain atrophy and thin corpus callosum, 617193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.717 TBCD Rebecca Foulger Marked gene: TBCD as ready
Early onset or syndromic epilepsy v0.717 TBCD Rebecca Foulger Gene: tbcd has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.717 TBCD Rebecca Foulger Classified gene: TBCD as Green List (high evidence)
Early onset or syndromic epilepsy v0.717 TBCD Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green. Green review. Confirmed DD-G2P gene for Early-Onset Neurodegenerative Encephalopathy, which can present with seizures. Sufficient cases of seizures (>3) in PMID:27666370 and PMID:27666374 for inclusion on panel.
Early onset or syndromic epilepsy v0.717 TBCD Rebecca Foulger Gene: tbcd has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.716 TBCD Rebecca Foulger Phenotypes for gene: TBCD were changed from Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193; seizures to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193; seizures; West syndrome
Early onset or syndromic epilepsy v0.715 TBCD Rebecca Foulger commented on gene: TBCD: In 8 children from 4 unrelated families, Miyake et al (PMID:27666374) identified homozygous or compound het variants in TBCD. Seizures were reported in 3 families (Table 2) and were reported as GTS (Chinese family 3), GTS/GTCS (Israel family 4) and West syndrome/cataplexy (Japanese Family 2).
Early onset or syndromic epilepsy v0.715 TBCD Rebecca Foulger commented on gene: TBCD
Early onset or syndromic epilepsy v0.715 TBCD Rebecca Foulger Mode of inheritance for gene: TBCD was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.714 TBCD Rebecca Foulger Publications for gene: TBCD were set to
Early onset or syndromic epilepsy v0.713 TBCD Rebecca Foulger Phenotypes for gene: TBCD were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193; seizures
Early onset or syndromic epilepsy TBCD Zornitza Stark reviewed gene: TBCD
Early onset or syndromic epilepsy TBCD Sarah Leigh Added gene to panel