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Early onset or syndromic epilepsy v2.354 TRAPPC6B Arina Puzriakova Phenotypes for gene: TRAPPC6B were changed from Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, 617862 to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, OMIM:617862
Early onset or syndromic epilepsy v2.353 TRAPPC6B Arina Puzriakova Publications for gene: TRAPPC6B were set to 28626029; 28397838; DOI 10.1055/s-0039-1693664
Early onset or syndromic epilepsy v1.325 TRAPPC6B Rebecca Foulger Publications for gene: TRAPPC6B were set to 28626029; 28397838
Early onset or syndromic epilepsy v1.324 TRAPPC6B Rebecca Foulger commented on gene: TRAPPC6B: The Amber review by Konstantinos Varvagiannis (25 Aug 2019) agrees with the current Amber rating of TRAPPC6B: therefore no further curation required.
Early onset or syndromic epilepsy v1.256 TRAPPC6B Konstantinos Varvagiannis reviewed gene: TRAPPC6B: Rating: AMBER; Mode of pathogenicity: None; Publications: 28626029, 28397838, DOI 10.1055/s-0039-1693664; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.223 TRAPPC6B Rebecca Foulger Marked gene: TRAPPC6B as ready
Early onset or syndromic epilepsy v1.223 TRAPPC6B Rebecca Foulger Gene: trappc6b has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.223 TRAPPC6B Rebecca Foulger commented on gene: TRAPPC6B: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene can remain as Amber.
Early onset or syndromic epilepsy v1.191 TRAPPC6B Rebecca Foulger Source Wessex and West Midlands GLH was added to TRAPPC6B.
Early onset or syndromic epilepsy v1.190 TRAPPC6B Rebecca Foulger Source NHS GMS was added to TRAPPC6B.
Early onset or syndromic epilepsy v1.189 TRAPPC6B Rebecca Foulger edited their review of gene: TRAPPC6B: 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: Alison Callaway and John Taylor. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 TRAPPC6B Tracy Lester reviewed gene: TRAPPC6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 28626029; Phenotypes: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, 617862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.109 TRAPPC6B Rebecca Foulger changed review comment from: In 2 patients from a consanguineous family, PMID:28397838 (Harripaul et al. 2018) identified a homozygous truncating variant in TRAPPC6N. The patients were selected for non-syndromic ID, which often presents with epilepsy but seizures were not discussed in the patients.; to: In 2 patients from a consanguineous family, PMID:28397838 (Harripaul et al. 2018) identified a homozygous truncating variant in TRAPPC6N. The patients were selected for non-syndromic ID, which often presents with epilepsy .
Early onset or syndromic epilepsy v0.627 TRAPPC6B Rebecca Foulger Marked gene: TRAPPC6B as ready
Early onset or syndromic epilepsy v0.627 TRAPPC6B Rebecca Foulger Gene: trappc6b has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.627 TRAPPC6B Rebecca Foulger Classified gene: TRAPPC6B as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.627 TRAPPC6B Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber: A founder TRAPPC6B variant was reported in recent PMID:28626029 in Egyptian patients with seizures. Plus additional variant in ID patient from PMID:28397838. Further unrelated cases are required for a diagnostic rating.
Early onset or syndromic epilepsy v0.627 TRAPPC6B Rebecca Foulger Gene: trappc6b has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.626 TRAPPC6B Rebecca Foulger Publications for gene: TRAPPC6B were set to
Early onset or syndromic epilepsy v0.625 TRAPPC6B Rebecca Foulger Mode of inheritance for gene: TRAPPC6B was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.624 TRAPPC6B Rebecca Foulger commented on gene: TRAPPC6B: In 2 patients from a consanguineous family, PMID:28397838 (Harripaul et al. 2018) identified a homozygous truncating variant in TRAPPC6N. The patients were selected for non-syndromic ID, which often presents with epilepsy but seizures were not discussed in the patients.
Early onset or syndromic epilepsy v0.624 TRAPPC6B Rebecca Foulger commented on gene: TRAPPC6B
Early onset or syndromic epilepsy v0.624 TRAPPC6B Rebecca Foulger Phenotypes for gene: TRAPPC6B were changed from to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, 617862
Early onset or syndromic epilepsy TRAPPC6B Zornitza Stark reviewed gene: TRAPPC6B
Early onset or syndromic epilepsy TRAPPC6B Sarah Leigh Added gene to panel