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Early onset or syndromic epilepsy v1.191 DYNC1H1 Rebecca Foulger Source Wessex and West Midlands GLH was added to DYNC1H1.
Early onset or syndromic epilepsy v1.190 DYNC1H1 Rebecca Foulger Source NHS GMS was added to DYNC1H1.
Early onset or syndromic epilepsy v1.189 DYNC1H1 Rebecca Foulger edited their review of gene: DYNC1H1: 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 DYNC1H1 Tracy Lester reviewed gene: DYNC1H1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21076407, 23603762, 27331017 ; Phenotypes: Charcot-Marie-Tooth disease,axonal type, 614228, Mental retardation autosomal dominant 614563, Spinal muscular atrophy lower extremity-predominant 1, AD 158600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.1122 DYNC1H1 Rebecca Foulger Marked gene: DYNC1H1 as ready
Early onset or syndromic epilepsy v0.1122 DYNC1H1 Rebecca Foulger Gene: dync1h1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1122 DYNC1H1 Rebecca Foulger Classified gene: DYNC1H1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1122 DYNC1H1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green review by Zornitza and sufficient unrelated cases (7 sporadic cases plus two brothers and their mother) in PMID:23603762 of patients with epilepsy for inclusion on panel.
Early onset or syndromic epilepsy v0.1122 DYNC1H1 Rebecca Foulger Gene: dync1h1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1121 DYNC1H1 Rebecca Foulger Phenotypes for gene: DYNC1H1 were changed from Mental retardation, autosomal dominant 13, 614563; Lennox Gastaut; Early-onset epilepsy; Late-onset epilepsy; Focal seizures to Mental retardation, autosomal dominant 13, 614563; malformations of cortical development (MCD); Lennox Gastaut; Early-onset epilepsy; Late-onset epilepsy; Focal seizures
Early onset or syndromic epilepsy v0.1120 DYNC1H1 Rebecca Foulger Phenotypes for gene: DYNC1H1 were changed from Mental retardation, autosomal dominant 13, 614563 to Mental retardation, autosomal dominant 13, 614563; Lennox Gastaut; Early-onset epilepsy; Late-onset epilepsy; Focal seizures
Early onset or syndromic epilepsy v0.1119 DYNC1H1 Rebecca Foulger commented on gene: DYNC1H1
Early onset or syndromic epilepsy v0.1119 DYNC1H1 Rebecca Foulger Mode of inheritance for gene: DYNC1H1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.1118 DYNC1H1 Rebecca Foulger Publications for gene: DYNC1H1 were set to
Early onset or syndromic epilepsy v0.1117 DYNC1H1 Rebecca Foulger Phenotypes for gene: DYNC1H1 were changed from to Mental retardation, autosomal dominant 13, 614563
Early onset or syndromic epilepsy DYNC1H1 Zornitza Stark reviewed gene: DYNC1H1
Early onset or syndromic epilepsy DYNC1H1 Sarah Leigh Added gene to panel