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Early onset or syndromic epilepsy v4.112 KPTN Arina Puzriakova Tag Q1_23_promote_green was removed from gene: KPTN.
Early onset or syndromic epilepsy v4.110 KPTN Arina Puzriakova reviewed gene: KPTN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v4.109 KPTN Arina Puzriakova Source Expert Review Green was added to KPTN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.111 KPTN Sarah Leigh Tag watchlist was removed from gene: KPTN.
Tag Q1_23_promote_green tag was added to gene: KPTN.
Early onset or syndromic epilepsy v3.111 KPTN Sarah Leigh edited their review of gene: KPTN: Added comment: Associated with relevant phenotype in OMIM and as strong Gen2Phen gene. At least five KPTN variants have been reported in four unrelated cases of OMIM: 615637, seizures were evident in three unrelated cases (PMID: 24239382;25847626;32358097;32808430).; Changed rating: GREEN
Early onset or syndromic epilepsy v3.111 KPTN Sarah Leigh Classified gene: KPTN as Amber List (moderate evidence)
Early onset or syndromic epilepsy v3.111 KPTN Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Early onset or syndromic epilepsy v3.111 KPTN Sarah Leigh Gene: kptn has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v3.110 KPTN Sarah Leigh Phenotypes for gene: KPTN were changed from Mental retardation, autosomal recessive 4,1615637; seizures to Intellectual developmental disorder, autosomal recessive 41, OMIM:615637; macrocephaly-developmental delay syndrome, MONDO:0014289
Early onset or syndromic epilepsy v3.109 KPTN Sarah Leigh Publications for gene: KPTN were set to 24239382; 25847626
Early onset or syndromic epilepsy v2.155 KPTN Zornitza Stark edited their review of gene: KPTN: Added comment: Two further publications (PMID 32358097; 32808430), more individuals reported with seizures, suggest upgrade to Green.; Changed publications: 32358097, 32808430
Early onset or syndromic epilepsy v1.191 KPTN Rebecca Foulger Source Wessex and West Midlands GLH was added to KPTN.
Early onset or syndromic epilepsy v1.190 KPTN Rebecca Foulger Source NHS GMS was added to KPTN.
Early onset or syndromic epilepsy v1.189 KPTN Rebecca Foulger edited their review of gene: KPTN: 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: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 KPTN Tracy Lester reviewed gene: KPTN: Rating: AMBER; Mode of pathogenicity: ; Publications: 24239382; Phenotypes: Mental retardation 41, 615637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.137 KPTN Rebecca Foulger Phenotypes for gene: KPTN were changed from Mental retardation, autosomal recessive 41615637 to Mental retardation, autosomal recessive 4,1615637; seizures
Early onset or syndromic epilepsy v1.136 KPTN Rebecca Foulger Classified gene: KPTN as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.136 KPTN Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber following evaluation of Green review by Zornitza. No further cases of KPTN variants associated with epilepsy/seizures are reported in the literature since PMID:24239382 (Baple et al., 2014: Founder effect in Amish community) and PMID:25847626 (Pajualu et al. 2015, 2 Estonian siblings with seizures in the brother). Although the association with ID is clearer, more epilepsy cases are required for a diagnostic-grade rating.
Early onset or syndromic epilepsy v1.136 KPTN Rebecca Foulger Gene: kptn has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.471 KPTN Sarah Leigh Marked gene: KPTN as ready
Early onset or syndromic epilepsy v0.471 KPTN Sarah Leigh Gene: kptn has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy KPTN Zornitza Stark reviewed gene: KPTN
Early onset or syndromic epilepsy KPTN Sarah Leigh classified KPTN as Amber List (moderate evidence)
Early onset or syndromic epilepsy KPTN Sarah Leigh Added gene to panel