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Early onset or syndromic epilepsy v4.110 DOLK Arina Puzriakova Tag watchlist was removed from gene: DOLK.
Tag Q1_23_promote_green was removed from gene: DOLK.
Early onset or syndromic epilepsy v4.110 DOLK Arina Puzriakova reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v4.109 DOLK Arina Puzriakova Source Expert Review Green was added to DOLK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.58 DOLK Sarah Leigh Tag Q1_23_promote_green tag was added to gene: DOLK.
Early onset or syndromic epilepsy v3.58 DOLK Sarah Leigh edited their review of gene: DOLK: Added comment: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. At least five DOLK variants have been reported in four unrelated cases of Congenital disorder of glycosylation, type Im, OMIM:610768, where seizures were reported in the patients (PMID: 28816422 table 1)(PMID 24144945;23890587;17273964).; Changed rating: GREEN
Early onset or syndromic epilepsy v3.58 DOLK Sarah Leigh Phenotypes for gene: DOLK were changed from Congenital disorder of glycosylation, type Im, 610768 to Congenital disorder of glycosylation, type Im, OMIM:610768; DK1-congenital disorder of glycosylation, MONDO:0012556
Early onset or syndromic epilepsy v3.57 DOLK Sarah Leigh Classified gene: DOLK as Amber List (moderate evidence)
Early onset or syndromic epilepsy v3.57 DOLK Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Early onset or syndromic epilepsy v3.57 DOLK Sarah Leigh Gene: dolk has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v3.56 DOLK Sarah Leigh Publications for gene: DOLK were set to 23890587; 17273964; 24144945; 28816422
Early onset or syndromic epilepsy v2.0 DOLK Zornitza Stark edited their review of gene: DOLK: Added comment: Early presentation with seizures and demise reported in some individuals. Transferrin isoforms are not a reliable test in the newborn period to guide appropriate genomic analysis towards a CDG/metabolic panel; we also note the 25% recurrence risk, and hence we have included this gene as Green on our panel.; Changed publications: 23890587, 28816422, 24144945
Early onset or syndromic epilepsy v1.439 DOLK Rebecca Foulger Classified gene: DOLK as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.439 DOLK Rebecca Foulger Gene: dolk has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.438 DOLK Rebecca Foulger commented on gene: DOLK: 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. Better tested through the metabolic panel. Demoted from Green to Amber.
Early onset or syndromic epilepsy v1.191 DOLK Rebecca Foulger Source Wessex and West Midlands GLH was added to DOLK.
Early onset or syndromic epilepsy v1.190 DOLK Rebecca Foulger Source NHS GMS was added to DOLK.
Early onset or syndromic epilepsy v1.189 DOLK Rebecca Foulger edited their review of gene: DOLK: 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: Alison Callaway and John Taylor. Suggested gene rating: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 DOLK Tracy Lester reviewed gene: DOLK: Rating: AMBER; Mode of pathogenicity: ; Publications: 23890587; Phenotypes: Congenital disorder of glycosylation type Im, 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.130 DOLK Rebecca Foulger Classified gene: DOLK as Green List (high evidence)
Early onset or syndromic epilepsy v1.130 DOLK Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green based on external review by Konstantinos Varvagiannis, the third case of seizures reported in PMID:24144945, and the review of seizure phenotypes also reported by PMID:24144945. Although seizures are not reported in all patients, the association of CDG is confirmed in DDG2P, seizures can be severe, and there are sufficient cases for inclusion on panel.
Early onset or syndromic epilepsy v1.130 DOLK Rebecca Foulger Gene: dolk has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.129 DOLK Rebecca Foulger Publications for gene: DOLK were set to 23890587; 17273964
Early onset or syndromic epilepsy v1.128 DOLK Rebecca Foulger commented on gene: DOLK: PMID:28816422 (Rush et al., 2017) report 2 sisters with novel compound het DOLK variants: c.951C>A (p.Tyr317Ter) and c.1558A>G (p.Thr520Ala). Patient 2 had one seizure at 53 days old- the seizures did not recur and the patient died age 64 days. Seizures were not noted for her sister (Patient 1), although she died at just over a week old.
Early onset or syndromic epilepsy v1.128 DOLK Rebecca Foulger commented on gene: DOLK: PMID:24144945 (Lieu et al., 2013) report a male neonate born to non-consanguineous Palestinian origin parents, with phenotypes including dysmorphic features, genital abnormalities, talipes equinovarus, and severe refractory generalized seizures. He harboured a homozygous p.Q483K DOLK variant- in patient fibroblasts this missense variant severely reduced substrate binding and cataytic activity. They also summarise clinical data of previous DOLK-CDG patients, and report seizures in 7/18 patients (Table 1 and article text).
Early onset or syndromic epilepsy v0.1324 DOLK Konstantinos Varvagiannis reviewed gene: DOLK: Rating: AMBER; Mode of pathogenicity: None; Publications: 24144945, 28816422; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v0.1294 DOLK Rebecca Foulger Marked gene: DOLK as ready
Early onset or syndromic epilepsy v0.1294 DOLK Rebecca Foulger Gene: dolk has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1294 DOLK Rebecca Foulger commented on gene: DOLK: Added 'watchlist' tag.
Early onset or syndromic epilepsy v0.1294 DOLK Rebecca Foulger Tag watchlist tag was added to gene: DOLK.
Early onset or syndromic epilepsy v0.1294 DOLK Rebecca Foulger Classified gene: DOLK as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1294 DOLK Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber: 2 families reported so far (2 siblings from PMID:23890587 and 1 of 2 cousins in PMID:17273964). Zornitza confirmed (via email on Dec 1st 2018) that there's no further known cases.
Early onset or syndromic epilepsy v0.1294 DOLK Rebecca Foulger Gene: dolk has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1093 DOLK Rebecca Foulger commented on gene: DOLK: Lebfer et al, 2011 (PMID:22242004) say epilepsy was not present in their patients with DOLK variants and dilated cardiomyopathy.
Early onset or syndromic epilepsy v0.1093 DOLK Rebecca Foulger Publications for gene: DOLK were set to 23890587
Early onset or syndromic epilepsy v0.1092 DOLK Rebecca Foulger commented on gene: DOLK: PMID:17273964 (Kranz et al. 2007) report 2 affected first cousins in a consanguineous German family with homozygosity for a 295T-A transversion in the DOLK gene (C99S). For subject GH, seizures due to hypsarrhythmia started at age 7 wk. Subject NB, a first cousin of GH, had no seizures. The authors also report 2 Turkish siblings from consanguineous parents with a 1322A-C transversion in the DOLK gene (Y441S). No epilepsy was mentioned, although death occured age 7 mo and 4 mo.
Early onset or syndromic epilepsy v0.1091 DOLK Rebecca Foulger Publications for gene: DOLK were set to
Early onset or syndromic epilepsy v0.1090 DOLK Rebecca Foulger commented on gene: DOLK
Early onset or syndromic epilepsy v0.1089 DOLK Rebecca Foulger Mode of inheritance for gene: DOLK was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1088 DOLK Rebecca Foulger Phenotypes for gene: DOLK were changed from to Congenital disorder of glycosylation, type Im, 610768
Early onset or syndromic epilepsy DOLK Zornitza Stark reviewed gene: DOLK
Early onset or syndromic epilepsy DOLK Sarah Leigh Added gene to panel