Activity

Filter

Cancel
Date Panel Item Activity
26 actions
Early onset or syndromic epilepsy v2.278 SCN9A Sarah Leigh edited their review of gene: SCN9A: Added comment: This gene should remain Red on this panel.; Changed rating: RED
Early onset or syndromic epilepsy v2.276 SCN9A Sarah Leigh Classified gene: SCN9A as Red List (low evidence)
Early onset or syndromic epilepsy v2.276 SCN9A Sarah Leigh Added comment: Comment on list classification: Evidence presented by PMID 33216760 disputes the association between SCN9A and epilepsy, inparticular the serendipitous identification of the SCN9A p.(Asn641Tyr) variant within the Wisconsin Amish community with no epilepsy in their phenotypes. The authors report this lack of gene disease association was also evident in the UK Biobank.
Early onset or syndromic epilepsy v2.276 SCN9A Sarah Leigh Gene: scn9a has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v2.275 SCN9A Sarah Leigh Publications for gene: SCN9A were set to 19763161; 29500686; 30834459; 23895530
Early onset or syndromic epilepsy v2.274 SCN9A Helen Lord reviewed gene: SCN9A: Rating: RED; Mode of pathogenicity: None; Publications: 33216760; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v1.475 SCN9A Rebecca Foulger Publications for gene: SCN9A were set to 19763161; 29500686
Early onset or syndromic epilepsy v1.436 SCN9A Rebecca Foulger Classified gene: SCN9A as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.436 SCN9A Rebecca Foulger Gene: scn9a has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.435 SCN9A Rebecca Foulger commented on gene: SCN9A: 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 insufficient evidence to rate this gene Green. Demoted SCN9A from Green to Amber.
Early onset or syndromic epilepsy v1.425 SCN9A Alison Callaway reviewed gene: SCN9A: Rating: AMBER; Mode of pathogenicity: None; Publications: 30834459, 29500686; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.351 SCN9A Rebecca Foulger edited their review of gene: SCN9A: Added comment: Added a Red review to highlight the comment from Diane Cairns (Manchester University NHS, North West GLH) that it would be acceptable to remove this gene from the Epilepsy Panel.; Changed rating: RED
Early onset or syndromic epilepsy v1.263 SCN9A Rebecca Foulger Source North West GLH was added to SCN9A.
Early onset or syndromic epilepsy v1.262 KCNA1 Rebecca Foulger commented on gene: KCNA1: Diane Cairns (Manchester University NHS, North West GLH) comments that "I have looked into the variants that we found on our Epilepsy panel in the FLNA, SCN9A and KCNA1 genes. Using ACGS guidelines these variants are all Class 3 or below, we therefore feel that it would be acceptable to remove these genes from the Epilepsy Panel." (personal communication via email to Jane Deller, 2019-09-04)
Early onset or syndromic epilepsy v1.262 SCN9A Rebecca Foulger commented on gene: SCN9A: Diane Cairns (Manchester University NHS, North West GLH) comments that "I have looked into the variants that we found on our Epilepsy panel in the FLNA, SCN9A and KCNA1 genes. Using ACGS guidelines these variants are all Class 3 or below, we therefore feel that it would be acceptable to remove these genes from the Epilepsy Panel." (personal communication via email to Jane Deller, 2019-09-04)
Early onset or syndromic epilepsy v1.262 FLNA Rebecca Foulger commented on gene: FLNA: Diane Cairns (Manchester University NHS, North West GLH) comments that "I have looked into the variants that we found on our Epilepsy panel in the FLNA, SCN9A and KCNA1 genes. Using ACGS guidelines these variants are all Class 3 or below, we therefore feel that it would be acceptable to remove these genes from the Epilepsy Panel." (personal communication via email to Jane Deller, 2019-09-04)
Early onset or syndromic epilepsy v1.230 SCN9A Rebecca Foulger Marked gene: SCN9A as ready
Early onset or syndromic epilepsy v1.230 SCN9A Rebecca Foulger Gene: scn9a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.230 SCN9A Rebecca Foulger commented on gene: SCN9A: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is sufficient evidence to rate this gene Green. Kept rating as Green.
Early onset or syndromic epilepsy v1.191 SCN9A Rebecca Foulger Source Wessex and West Midlands GLH was added to SCN9A.
Early onset or syndromic epilepsy v1.190 SCN9A Rebecca Foulger Source NHS GMS was added to SCN9A.
Early onset or syndromic epilepsy v1.189 SCN9A Rebecca Foulger reviewed gene: SCN9A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 SCN9A Tracy Lester reviewed gene: SCN9A: Rating: AMBER; Mode of pathogenicity: ; Publications: 19763161, 23895530 ; Phenotypes: Epilepsy, generalized, with febrile seizures plus, type 7,613863, Erythermalgia, primary,133020, Febrile seizures, familial,613863, HSAN2D,243000, Insensitivity to pain, congenital,243000, Paroxysmal extreme pain disorder,167400, Small fiber neuropathy,133020; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy SCN9A Sarah Leigh classified SCN9A as Green List (high evidence)
Early onset or syndromic epilepsy SCN9A Sarah Leigh reviewed SCN9A
Early onset or syndromic epilepsy SCN9A Sarah Leigh Added gene to panel