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Early onset or syndromic epilepsy v1.191 DNM1L Rebecca Foulger Source Wessex and West Midlands GLH was added to DNM1L.
Early onset or syndromic epilepsy v1.190 DNM1L Rebecca Foulger Source NHS GMS was added to DNM1L.
Early onset or syndromic epilepsy v1.189 DNM1L Rebecca Foulger edited their review of gene: DNM1L: 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 DNM1L Tracy Lester reviewed gene: DNM1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 26604000, 27145208 ; Phenotypes: Encephalopathy lethal due to defective mitochondrial peroxisomal fission, 614388, Optic atrophy, 610708; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1321 DNM1L Rebecca Foulger Added comment: Comment on mode of inheritance: Both autosomal dominant and autosomal recessive inheritance reported by OMIM for 'Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388'.
Early onset or syndromic epilepsy v0.1321 DNM1L Rebecca Foulger Mode of inheritance for gene: DNM1L was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1087 DNM1L Rebecca Foulger Marked gene: DNM1L as ready
Early onset or syndromic epilepsy v0.1087 DNM1L Rebecca Foulger Gene: dnm1l has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1087 DNM1L Rebecca Foulger Classified gene: DNM1L as Green List (high evidence)
Early onset or syndromic epilepsy v0.1087 DNM1L Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green rating by Zornitza. At least 3 cases in the literature of unrelated patients with DNM1L variants and seizures (1 in PMID:26604000 and 2 in PMID:27145208).
Early onset or syndromic epilepsy v0.1087 DNM1L Rebecca Foulger Gene: dnm1l has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1086 DNM1L Rebecca Foulger Phenotypes for gene: DNM1L were changed from Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388; refractory epilepsy; refractory focal status epilepticus
Early onset or syndromic epilepsy v0.1085 DNM1L Rebecca Foulger commented on gene: DNM1L
Early onset or syndromic epilepsy v0.1085 DNM1L Rebecca Foulger Publications for gene: DNM1L were set to 26604000
Early onset or syndromic epilepsy v0.1083 DNM1L Rebecca Foulger Publications for gene: DNM1L were set to
Early onset or syndromic epilepsy v0.1082 DNM1L Rebecca Foulger Mode of inheritance for gene: DNM1L was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1081 DNM1L Rebecca Foulger Phenotypes for gene: DNM1L were changed from to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388
Early onset or syndromic epilepsy DNM1L Zornitza Stark reviewed gene: DNM1L
Early onset or syndromic epilepsy DNM1L Sarah Leigh Added gene to panel