Activity

Filter

Cancel
Date Panel Item Activity
23 actions
Early onset or syndromic epilepsy v3.30 DEAF1 Arina Puzriakova Tag Q4_21_MOI was removed from gene: DEAF1.
Early onset or syndromic epilepsy v3.29 DEAF1 Arina Puzriakova commented on gene: DEAF1
Early onset or syndromic epilepsy v3.28 DEAF1 Arina Puzriakova Mode of inheritance for gene DEAF1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v2.449 DEAF1 Ivone Leong Tag Q4_21_MOI tag was added to gene: DEAF1.
Early onset or syndromic epilepsy v2.449 DEAF1 Ivone Leong reviewed gene: DEAF1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v2.0 DEAF1 Zornitza Stark reviewed gene: DEAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30923367; Phenotypes: Dyskinesia, seizures, and intellectual developmental disorder 617171, autosomal dominant mental retardation 24, MIM# 615828; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.276 DEAF1 Rebecca Foulger Marked gene: DEAF1 as ready
Early onset or syndromic epilepsy v1.276 DEAF1 Rebecca Foulger Gene: deaf1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.276 DEAF1 Rebecca Foulger Phenotypes for gene: DEAF1 were changed from ?Dyskinesia, seizures, and intellectual developmental disorder 617171 to ?Dyskinesia, seizures, and intellectual developmental disorder, 617171
Early onset or syndromic epilepsy v1.275 DEAF1 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed Mode of Inheritance from 'BOTH monoallelic and biallelic' to 'BIALLELIC' based on post-Webex reviews from Helen Lord. The original comment from West Midlands, Oxford and Wessex GLH (uploaded for Tracy Lester) also supports biallelic inheritance.
Early onset or syndromic epilepsy v1.275 DEAF1 Rebecca Foulger Mode of inheritance for gene: DEAF1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.262 DEAF1 Rebecca Foulger commented on gene: DEAF1: Mode of inheritance 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 where the mode of inheritance was re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy. No rating was included in the review, so I have uploaded a Green rating to match the original West Midlands, Oxford and Wessex GLH rating.
Early onset or syndromic epilepsy v1.261 DEAF1 Helen Lord reviewed gene: DEAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.191 DEAF1 Rebecca Foulger Source Wessex and West Midlands GLH was added to DEAF1.
Early onset or syndromic epilepsy v1.190 DEAF1 Rebecca Foulger Source NHS GMS was added to DEAF1.
Early onset or syndromic epilepsy v1.189 DEAF1 Rebecca Foulger edited their review of gene: DEAF1: 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 DEAF1 Tracy Lester reviewed gene: DEAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26048982; Phenotypes: ?Dyskinesia, seizures, and intellectual developmental disorder 617171, Mental retardation autosomal dominant, 615828; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.164 DEAF1 Rebecca Foulger Publications for gene: DEAF1 were set to 26048982; 28940898; 26834045; 30109124
Early onset or syndromic epilepsy v1.163 DEAF1 Rebecca Foulger Added comment: Comment on mode of inheritance: PMID:30923367 supports the 'BOTH monoallelic and biallelic' MOI:. Nabais et al., 2019 investigated AD and AR DEAF1 variants in a cohort of 23 patients. With the exception of microcephaly, most phenotypes (including ID, DD and seizures) were reported in patients with biallelic and pathogenic de novo DEAF1 variants.
Early onset or syndromic epilepsy v1.163 DEAF1 Rebecca Foulger Mode of inheritance for gene: DEAF1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy DEAF1 Sarah Leigh marked gene: DEAF1 as ready
Early onset or syndromic epilepsy DEAF1 Sarah Leigh classified DEAF1 as Green List (high evidence)
Early onset or syndromic epilepsy DEAF1 Sarah Leigh Added gene to panel