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Early onset or syndromic epilepsy v8.145 HCN2 Ida Ertmanska Phenotypes for gene: HCN2 were changed from Genetic epilepsy with febrile seizures plus; Other seizure disorders to Generalized epilepsy with febrile seizures plus, type 11, OMIM:602477; neurodevelopmental disorder, MONDO:0700092
Early onset or syndromic epilepsy v8.144 HCN2 Ida Ertmanska Publications for gene: HCN2 were set to 29064616; 20437590; 12514127; 17931874; 22131395
Early onset or syndromic epilepsy v8.143 HCN2 Ida Ertmanska edited their review of gene: HCN2: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v8.143 HCN2 Ida Ertmanska Tag Q1_26_promote_green was removed from gene: HCN2.
Early onset or syndromic epilepsy v8.143 HCN2 Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: HCN2.
Early onset or syndromic epilepsy v8.143 HCN2 Ida Ertmanska reviewed gene: HCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 40468825; Phenotypes: Generalized epilepsy with febrile seizures plus, type 11, OMIM:602477, neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.426 HCN2 Rebecca Foulger Marked gene: HCN2 as ready
Early onset or syndromic epilepsy v1.426 HCN2 Rebecca Foulger Gene: hcn2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.426 HCN2 Rebecca Foulger commented on gene: HCN2: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call 22nd November 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is enough evidence to rate this gene Green. Although this is a borderline case with questions over phenotype segregation, there are sufficient cases to support inclusion. Although seizures aren’t one of the cardinal phenotypes, most cases will be trios and therefore there will be less issues in being inclusive. Kept rating of HCN2 as Green with the option of review on subsequent panel versions.
Early onset or syndromic epilepsy v1.408 HCN2 Rebecca Foulger Added comment: Comment on mode of inheritance: Kept MOI as 'BOTH monoallelic and biallelic' as supported by reviews from Helen Lord and Alison Callaway, and literature (PMID:22131395).
Early onset or syndromic epilepsy v1.408 HCN2 Rebecca Foulger Mode of inheritance for gene: HCN2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.262 HCN2 Rebecca Foulger commented on gene: HCN2: Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset that were re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.
Early onset or syndromic epilepsy v1.261 HCN2 Helen Lord reviewed gene: HCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.256 HCN2 Alison Callaway reviewed gene: HCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29064616, 22131395; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.256 HCN2 Alison Callaway Deleted their review
Early onset or syndromic epilepsy v1.256 HCN2 Alison Callaway reviewed gene: HCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29064616, 22131395; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.198 HCN2 Rebecca Foulger changed review comment from: Comment on mode of inheritance: PMID:22131395: DiFrancesco et al. 2011 report a homozygous HCN2 variant (p.E515K) in a patient with idiopathic generalized epilepsy. Of 17 screened members of the same family, the proband was the only one affected and homozygous for the variant. This is the first evidence in humans for a single-point, homozygous loss-of-function mutation in HCN2 potentially associated with generalized epilepsy with recessive inheritance.; to: Comment on mode of inheritance: PMID:22131395: DiFrancesco et al. 2011 report a homozygous HCN2 variant (p.E515K) in a patient with idiopathic generalized epilepsy. Of 17 screened members of the same family, the proband was the only one affected and homozygous for the variant. This is the first evidence in humans for a single-point, homozygous loss-of-function mutation in HCN2 potentially associated with generalized epilepsy with recessive inheritance. Hence MOI listed as BOTH monoallelic and biallelic.
Early onset or syndromic epilepsy v1.191 HCN2 Rebecca Foulger Source Wessex and West Midlands GLH was added to HCN2.
Early onset or syndromic epilepsy v1.190 HCN2 Rebecca Foulger Source NHS GMS was added to HCN2.
Early onset or syndromic epilepsy v1.189 HCN2 Rebecca Foulger edited their review of gene: HCN2: 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. Suggested gene rating: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 HCN2 Tracy Lester reviewed gene: HCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: 29064616; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.154 HCN2 Rebecca Foulger changed review comment from: Comment on mode of inheritance: PMID:29064616: DiFrancesco et al. 2011 report a homozygous HCN2 variant (p.E515K) in a patient with idiopathic generalized epilepsy. Of 17 screened members of the same family, the proband was the only one affected and homozygous for the variant. This is the first evidence in humans for a single-point, homozygous loss-of-function mutation in HCN2 potentially associated with generalized epilepsy with recessive inheritance.; to: Comment on mode of inheritance: PMID:22131395: DiFrancesco et al. 2011 report a homozygous HCN2 variant (p.E515K) in a patient with idiopathic generalized epilepsy. Of 17 screened members of the same family, the proband was the only one affected and homozygous for the variant. This is the first evidence in humans for a single-point, homozygous loss-of-function mutation in HCN2 potentially associated with generalized epilepsy with recessive inheritance.
Early onset or syndromic epilepsy v1.154 HCN2 Rebecca Foulger Added comment: Comment on mode of inheritance: PMID:29064616: DiFrancesco et al. 2011 report a homozygous HCN2 variant (p.E515K) in a patient with idiopathic generalized epilepsy. Of 17 screened members of the same family, the proband was the only one affected and homozygous for the variant. This is the first evidence in humans for a single-point, homozygous loss-of-function mutation in HCN2 potentially associated with generalized epilepsy with recessive inheritance.
Early onset or syndromic epilepsy v1.154 HCN2 Rebecca Foulger Mode of inheritance for gene: HCN2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1146 HCN2 Ivone Leong Marked gene: HCN2 as ready
Early onset or syndromic epilepsy v0.1146 HCN2 Ivone Leong Gene: hcn2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1110 HCN2 Ivone Leong Classified gene: HCN2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1110 HCN2 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. No phenotypes have been associated with HCN2 in OMIM or Gene2Phenotype. There are 2 papers (PMID: 29064616, 17931874) reporting misssense, frameshift and small deletion variants in HCN2 associated with Genetic epilepsy with febrile seizures plus disorders and other epilepsy/seizure disorders (e.g. Idiopathic generalized epilepsy). There is also evidence that these variants cause gain-of-function effects (PMID: 29064616). Another study reported on a patient with sporadic idiopathic generalised seizures who had a recessive loss-of-function missense variant. An HCN2 knockout mouse model (PMID: 12514127) had absence seizures.
Early onset or syndromic epilepsy v0.1110 HCN2 Ivone Leong Gene: hcn2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1109 HCN2 Ivone Leong Phenotypes for gene: HCN2 were changed from Genetic epilepsy with efbrile seizures plus; Other seizure disorders to Genetic epilepsy with febrile seizures plus; Other seizure disorders
Early onset or syndromic epilepsy v0.1108 HCN2 Ivone Leong Phenotypes for gene: HCN2 were changed from to Genetic epilepsy with efbrile seizures plus; Other seizure disorders
Early onset or syndromic epilepsy v0.1107 HCN2 Ivone Leong Mode of inheritance for gene: HCN2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1106 HCN2 Ivone Leong Publications for gene: HCN2 were set to 29064616; 20437590; 12514127; 17931874
Early onset or syndromic epilepsy v0.1105 HCN2 Ivone Leong Publications for gene: HCN2 were set to
Early onset or syndromic epilepsy HCN2 Zornitza Stark reviewed gene: HCN2
Early onset or syndromic epilepsy HCN2 Sarah Leigh Added gene to panel