Activity

Filter

Cancel
Date Panel Item Activity
14 actions
Genetic Epilepsy v0.1194 HCN2 Zornitza Stark Phenotypes for gene: HCN2 were changed from Genetic epilepsy with febrile seizures plus; Other seizure disorders to Febrile seizures, familial, 2, MIM# 602477; Genetic epilepsy with febrile seizures plus; Other seizure disorders
Genetic Epilepsy v0.1193 HCN2 Zornitza Stark edited their review of gene: HCN2: Changed phenotypes: Febrile seizures, familial, 2, MIM# 602477, Genetic epilepsy with febrile seizures plus, Other seizure disorders
Genetic Epilepsy v0.309 HCN2 Zornitza Stark Phenotypes for gene: HCN2 were changed from to Genetic epilepsy with febrile seizures plus; Other seizure disorders
Genetic Epilepsy v0.308 HCN2 Zornitza Stark Publications for gene: HCN2 were set to
Genetic Epilepsy v0.307 HCN2 Zornitza Stark Mode of inheritance for gene: HCN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.305 HCN2 Zornitza Stark Classified gene: HCN2 as Green List (high evidence)
Genetic Epilepsy v0.305 HCN2 Zornitza Stark Gene: hcn2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.304 HCN2 Zornitza Stark edited their review of gene: HCN2: Added comment: Evidence for both mono-allelic and bi-allelic variants causing disease; also evidence for both GoF and LoF as mechanism.; Changed mode of pathogenicity: Other; Changed publications: 22131395, 30986657, 29064616, 20437590, 12514127, 17931874; Changed phenotypes: Genetic epilepsy with febrile seizures plus, Other seizure disorders; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Set current diagnostic: yes
Genetic Epilepsy v0.1 HCN2 Zornitza Stark Marked gene: HCN2 as ready
Genetic Epilepsy v0.1 HCN2 Zornitza Stark Gene: hcn2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1 HCN2 Zornitza Stark Classified gene: HCN2 as Amber List (moderate evidence)
Genetic Epilepsy v0.1 HCN2 Zornitza Stark Gene: hcn2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.0 HCN2 Zornitza Stark reviewed gene: HCN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 22131395, 30986657; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.0 HCN2 Zornitza Stark gene: HCN2 was added
gene: HCN2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HCN2 was set to Unknown