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Early onset or syndromic epilepsy v1.191 NECAP1 Rebecca Foulger Source Wessex and West Midlands GLH was added to NECAP1.
Early onset or syndromic epilepsy v1.190 NECAP1 Rebecca Foulger Source NHS GMS was added to NECAP1.
Early onset or syndromic epilepsy v1.189 NECAP1 Rebecca Foulger edited their review of gene: NECAP1: 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 NECAP1 Tracy Lester reviewed gene: NECAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24399846; Phenotypes: ?Epileptic encephalopathy, early infantile, 21, 615833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.51 NECAP1 Rebecca Foulger Phenotypes for gene: NECAP1 were changed from ?Epileptic encephalopathy, early infantile,21 to Epileptic encephalopathy, early infantile, 21, 615833; Early onset epileptic encephalopathy (EOEE)
Early onset or syndromic epilepsy v1.50 NECAP1 Rebecca Foulger Added comment: Comment on mode of inheritance: Set MOI to BIALLELIC to match reviews by Konstantinos and Zornitza, recent papers and OMIM.
Early onset or syndromic epilepsy v1.50 NECAP1 Rebecca Foulger Mode of inheritance for gene: NECAP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.49 NECAP1 Rebecca Foulger Publications for gene: NECAP1 were set to
Early onset or syndromic epilepsy v1.48 NECAP1 Rebecca Foulger commented on gene: NECAP1: PMID:30626896 (Mizuguchi et al. 2019) report a 16-month-old Malaysian boy who developed infantile-onset tonic-clonic and tonic seizures age 3 months, then spasms in clusters. WES identified the splice site variant c.301+1G>A in NECAP1.
Early onset or syndromic epilepsy v1.48 NECAP1 Rebecca Foulger commented on gene: NECAP1
Early onset or syndromic epilepsy v1.13 NECAP1 Konstantinos Varvagiannis reviewed gene: NECAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24399846, 30525121, 30626896; Phenotypes: ?Epileptic encephalopathy, early infantile 21, 615833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1528 NECAP1 Sarah Leigh Marked gene: NECAP1 as ready
Early onset or syndromic epilepsy v0.1528 NECAP1 Sarah Leigh Added comment: Comment when marking as ready: Single family reported.
Early onset or syndromic epilepsy v0.1528 NECAP1 Sarah Leigh Gene: necap1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy NECAP1 Zornitza Stark commented on gene: NECAP1
Early onset or syndromic epilepsy NECAP1 Zornitza Stark reviewed gene: NECAP1
Early onset or syndromic epilepsy NECAP1 Sarah Leigh Added gene to panel