Activity

Filter

Cancel
Date Panel Item Activity
19 actions
Early onset or syndromic epilepsy v1.191 EIF2S3 Rebecca Foulger Source Wessex and West Midlands GLH was added to EIF2S3.
Early onset or syndromic epilepsy v1.190 EIF2S3 Rebecca Foulger Source NHS GMS was added to EIF2S3.
Early onset or syndromic epilepsy v1.189 EIF2S3 Rebecca Foulger edited their review of gene: EIF2S3: 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 and Helen Lord. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 EIF2S3 Tracy Lester reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27333055, 28055140 ; Phenotypes: MEHMO syndrome, 300148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v0.1215 EIF2S3 Rebecca Foulger Marked gene: EIF2S3 as ready
Early onset or syndromic epilepsy v0.1215 EIF2S3 Rebecca Foulger Gene: eif2s3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1215 EIF2S3 Rebecca Foulger Classified gene: EIF2S3 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1215 EIF2S3 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Probable rating in Gene2Phenotype for 'Syndromic ID with severe microcephaly' but sufficient unrelated cases (>3) of seizures in MEHMO patients from literature (PMIDs 23063529,27333055,28055140).
Early onset or syndromic epilepsy v0.1215 EIF2S3 Rebecca Foulger Gene: eif2s3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1214 EIF2S3 Rebecca Foulger Added comment: Comment on mode of inheritance: X-linked recessive MOI supported by OMIM and literature.
Early onset or syndromic epilepsy v0.1214 EIF2S3 Rebecca Foulger Mode of inheritance for gene: EIF2S3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v0.1213 EIF2S3 Rebecca Foulger Publications for gene: EIF2S3 were set to
Early onset or syndromic epilepsy v0.1212 EIF2S3 Rebecca Foulger commented on gene: EIF2S3: Skopkova et al 2017 (PMID:28055140) identified a C-terminal frameshift mutation (Ile465Serfs) in the EIF2S3 gene in three families with MEHMO syndrome and a novel maternally inherited missense EIF2S3 variant (c.324T>A; p.Ser108Arg) in another male patient with less severe clinical symptoms. Two of the families had members with seizures amongst their phenotypes.
Early onset or syndromic epilepsy v0.1212 EIF2S3 Rebecca Foulger commented on gene: EIF2S3: Moortgat et al, 2016 (PMID:27333055) examined syndromic intellectual disability in two unrelated families with suspected X-linked inheritance. In both families, affected males presented with severe intellectual disability, microcephaly, growth retardation, and epilepsy in most individuals. A missense variant(c.777T>G p.(Ile259Met)) and a frameshift variant (c.1394_1397del p.(Ile465Serfs*4)) were identified in the EIF2S3 gene in the hemizygous state in affected patients, and in the heterozygous states female obligate carriers.
Early onset or syndromic epilepsy v0.1212 EIF2S3 Rebecca Foulger commented on gene: EIF2S3: Borck et al., 2012 (PMID:23063529) ascertained a family of Morocco Jewish ancestry in which three male individuals were affected by X-linked intellectual disability (ID). Individual III:2 had generalized seizures.
Early onset or syndromic epilepsy v0.1212 EIF2S3 Rebecca Foulger commented on gene: EIF2S3
Early onset or syndromic epilepsy v0.1211 EIF2S3 Rebecca Foulger Phenotypes for gene: EIF2S3 were changed from to MEHMO syndrome, 300148
Early onset or syndromic epilepsy EIF2S3 Zornitza Stark reviewed gene: EIF2S3
Early onset or syndromic epilepsy EIF2S3 Sarah Leigh Added gene to panel