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Early onset or syndromic epilepsy v2.598 NRXN1 Arina Puzriakova Phenotypes for gene: NRXN1 were changed from Pitt-Hopkins-like syndrome 2, 614325 to Pitt-Hopkins-like syndrome 2, OMIM:614325 (AR); Complex neurodevelopmental disorder (AD)
Early onset or syndromic epilepsy v1.284 NRXN1 Rebecca Foulger Marked gene: NRXN1 as ready
Early onset or syndromic epilepsy v1.284 NRXN1 Rebecca Foulger Gene: nrxn1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.284 NRXN1 Rebecca Foulger changed review comment from: Comment on mode of inheritance: Kept Mode of Inheritance as 'BOTH monoallelic and biallelic' based on Post-Webex review by Helen Lord.; to: Comment on mode of inheritance: Kept Mode of Inheritance as 'BOTH monoallelic and biallelic' based on post-Webex review by Helen Lord.
Early onset or syndromic epilepsy v1.284 NRXN1 Rebecca Foulger Publications for gene: NRXN1 were set to 21964664; 19896112; 30031152; 23533028
Early onset or syndromic epilepsy v1.283 NRXN1 Rebecca Foulger Added comment: Comment on mode of inheritance: Kept Mode of Inheritance as 'BOTH monoallelic and biallelic' based on Post-Webex review by Helen Lord.
Early onset or syndromic epilepsy v1.283 NRXN1 Rebecca Foulger Mode of inheritance for gene: NRXN1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.262 NRXN1 Rebecca Foulger commented on gene: NRXN1: 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 NRXN1 Helen Lord reviewed gene: NRXN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.203 NRXN1 Rebecca Foulger Added comment: Comment on mode of inheritance: PMID:30031152 (Al Shehhi et al.) report heterozygous deletions of NRXN1 with phenotypes including seizures. At least PMID:21964664 (Harrison et al.) and PMID:19896112 report a biallelic mode of inheritance.
Early onset or syndromic epilepsy v1.203 NRXN1 Rebecca Foulger Mode of inheritance for gene: NRXN1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.191 NRXN1 Rebecca Foulger Source Wessex and West Midlands GLH was added to NRXN1.
Early onset or syndromic epilepsy v1.190 NRXN1 Rebecca Foulger Source NHS GMS was added to NRXN1.
Early onset or syndromic epilepsy v1.189 NRXN1 Rebecca Foulger reviewed gene: NRXN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 NRXN1 Tracy Lester reviewed gene: NRXN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19896112, 22617343 ; Phenotypes: Pitt-Hopkins-like syndrome 2 614325, {Schizophrenia, susceptibility to, 17}, 614332; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy NRXN1 Sarah Leigh marked gene: NRXN1 as ready
Early onset or syndromic epilepsy NRXN1 Sarah Leigh classified NRXN1 as Green List (high evidence)
Early onset or syndromic epilepsy NRXN1 Zornitza Stark reviewed gene: NRXN1
Early onset or syndromic epilepsy NRXN1 Sarah Leigh Added gene to panel