Activity

Filter

Cancel
Date Panel Item Activity
28 actions
Early onset or syndromic epilepsy v2.491 SETD5 Sarah Leigh Tag for-review was removed from gene: SETD5.
Early onset or syndromic epilepsy v2.491 SETD5 Sarah Leigh commented on gene: SETD5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.490 SETD5 Sarah Leigh Source Expert Review Green was added to SETD5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.185 SETD5 Arina Puzriakova Classified gene: SETD5 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v2.185 SETD5 Arina Puzriakova Gene: setd5 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v2.184 SETD5 Arina Puzriakova Classified gene: SETD5 as Green List (high evidence)
Early onset or syndromic epilepsy v2.184 SETD5 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Early onset or syndromic epilepsy v2.184 SETD5 Arina Puzriakova Gene: setd5 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v2.181 SETD5 Arina Puzriakova Tag for-review tag was added to gene: SETD5.
Early onset or syndromic epilepsy v2.84 SETD5 Sarah Leigh Classified gene: SETD5 as Green List (high evidence)
Early onset or syndromic epilepsy v2.84 SETD5 Sarah Leigh Added comment: Comment on list classification: Review article PMID 29484850 reports seizures in 10/42 (23.8%) cases of autism spectrum disorders carrying heterozygous SETD5 variants.
Early onset or syndromic epilepsy v2.84 SETD5 Sarah Leigh Gene: setd5 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v2.83 SETD5 Sarah Leigh Publications for gene: SETD5 were set to 25138099; 24680889
Early onset or syndromic epilepsy v2.0 SETD5 Zornitza Stark reviewed gene: SETD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 29484850; Phenotypes: Intellectual disability, autosomal dominant 23 (MIM # 615761); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Early onset or syndromic epilepsy v1.397 SETD5 Rebecca Foulger Phenotypes for gene: SETD5 were changed from Mental retardation, autosomal dominant 23 to Mental retardation, autosomal dominant 23, 615761
Early onset or syndromic epilepsy v1.396 SETD5 Rebecca Foulger Publications for gene: SETD5 were set to
Early onset or syndromic epilepsy v1.236 SETD5 Rebecca Foulger changed review comment from: Re-reviewed this gene when curating panel for GMS Clinical Indication R59 Early onset or syndromic epilepsy. Although four reviewers agreed it should be on EE panel, there is limited evidence of a seizure phenotype. PMID:26482601: (Kobayashi et al., 2016) examined 11 patients with early-onset epileptic encephalopathy, and SETD5 variants were amongst the findings. Therefore awaited clinical input on whether SETD5 should be demoted on this panel.; to: Re-reviewed this gene when curating panel for GMS Clinical Indication R59 Early onset or syndromic epilepsy. In summary: although four reviewers agreed it should be on EE panel, there is limited evidence of a seizure phenotype. PMID:26482601: (Kobayashi et al., 2016) examined 11 patients with early-onset epileptic encephalopathy, and SETD5 variants were amongst the findings. Therefore consider demoting SETD5.
Early onset or syndromic epilepsy v1.228 SETD5 Rebecca Foulger Marked gene: SETD5 as ready
Early onset or syndromic epilepsy v1.228 SETD5 Rebecca Foulger Gene: setd5 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.227 SETD5 Rebecca Foulger Classified gene: SETD5 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.227 SETD5 Rebecca Foulger Gene: setd5 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.226 SETD5 Rebecca Foulger commented on gene: SETD5: 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 insufficient evidence to rate this gene Green, and an Amber rating is appropriate. Demoted from Green to Amber.
Early onset or syndromic epilepsy v1.226 SETD5 Rebecca Foulger commented on gene: SETD5: Re-reviewed this gene when curating panel for GMS Clinical Indication R59 Early onset or syndromic epilepsy. Although four reviewers agreed it should be on EE panel, there is limited evidence of a seizure phenotype. PMID:26482601: (Kobayashi et al., 2016) examined 11 patients with early-onset epileptic encephalopathy, and SETD5 variants were amongst the findings. Therefore awaited clinical input on whether SETD5 should be demoted on this panel.
Early onset or syndromic epilepsy v1.191 SETD5 Rebecca Foulger Source Wessex and West Midlands GLH was added to SETD5.
Early onset or syndromic epilepsy v1.190 SETD5 Rebecca Foulger Source NHS GMS was added to SETD5.
Early onset or syndromic epilepsy v1.189 SETD5 Rebecca Foulger reviewed gene: SETD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 SETD5 Tracy Lester reviewed gene: SETD5: Rating: AMBER; Mode of pathogenicity: ; Publications: 25138099, 24680889 ; Phenotypes: Mental retardation, 615761; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy SETD5 Sarah Leigh Added gene to panel