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Early onset or syndromic epilepsy v4.135 ALPL Achchuthan Shanmugasundram Tag drug-indication was removed from gene: ALPL.
Early onset or syndromic epilepsy v1.264 ALPL Rebecca Foulger commented on gene: ALPL: Kept rating as Green based on post-Webex reviews from Helen Lord and Alison Callaway.
Early onset or syndromic epilepsy v1.264 ALPL Rebecca Foulger changed review comment from: Comment on mode of inheritance: Updated Mode of Inheritance from 'BOTH monoallelic and biallelic to 'BIALLELIC' based on Post-Webex review by Helen Lord: AR but not AD Hypophosphatasia associated with seizures.; to: Comment on mode of inheritance: Updated Mode of Inheritance from 'BOTH monoallelic and biallelic' to 'BIALLELIC' based on Post-Webex review by Helen Lord: AR but not AD Hypophosphatasia is associated with seizures.
Early onset or syndromic epilepsy v1.264 ALPL Rebecca Foulger Added comment: Comment on mode of inheritance: Updated Mode of Inheritance from 'BOTH monoallelic and biallelic to 'BIALLELIC' based on Post-Webex review by Helen Lord: AR but not AD Hypophosphatasia associated with seizures.
Early onset or syndromic epilepsy v1.264 ALPL Rebecca Foulger Mode of inheritance for gene: ALPL was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.262 ALPL Rebecca Foulger commented on gene: ALPL: Review and rating 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 that were re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.
Early onset or syndromic epilepsy v1.261 ALPL Helen Lord reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.258 ALPL Rebecca Foulger changed review comment from: PMID:30979546: Whyte et al., 2019 report Vitamin B6-dependent seizures in 10/38 (26%) of patients: 7 patients had documented seizures and 3 patients had a family hisotry of seizures based upon medical records.; to: PMID:30979546: Whyte et al., 2019 report Vitamin B6-dependent seizures in 10/38 (26%) of patients: 7 patients had documented seizures and 3 patients had a family history of seizures based upon medical records.
Early onset or syndromic epilepsy v1.256 ALPL Alison Callaway changed review comment from: Epilepsy can be associated with hypophosphasia; no further literature identified. From reviews below, appears to have sufficient evidence for a green gene.; to: Epilepsy can be associated with hypophosphatasia; no further literature identified. From reviews below, appears to have sufficient evidence for a green gene.
Early onset or syndromic epilepsy v1.256 ALPL Alison Callaway reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v1.191 ALPL Rebecca Foulger Source Wessex and West Midlands GLH was added to ALPL.
Early onset or syndromic epilepsy v1.190 ALPL Rebecca Foulger Source NHS GMS was added to ALPL.
Early onset or syndromic epilepsy v1.189 ALPL Rebecca Foulger edited their review of gene: ALPL: 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: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 ALPL Tracy Lester reviewed gene: ALPL: Rating: AMBER; Mode of pathogenicity: ; Publications: 3350970, 7550313 ; Phenotypes: Hypophosphatasia, adult 146300, Hypophosphatasia, childhood 241510, Hypophosphatasia, infantile 241500, Odontohypophosphatasia, 146300, ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.173 ALPL Rebecca Foulger Publications for gene: ALPL were set to 11999978; 28802630; 23479201; 27086862; 30655187; 30083035
Early onset or syndromic epilepsy v1.172 ALPL Rebecca Foulger commented on gene: ALPL: PMID:30979546: Whyte et al., 2019 report Vitamin B6-dependent seizures in 10/38 (26%) of patients: 7 patients had documented seizures and 3 patients had a family hisotry of seizures based upon medical records.
Early onset or syndromic epilepsy v1.172 ALPL Rebecca Foulger commented on gene: ALPL: PMID:30083035: Oyachi et al., 2018 report a newborn girl with compound het variants in ALPL (c.1559delT/p.Ser188Pro). The patient had seizures on days 2-4, treated with pyridoxine.
Early onset or syndromic epilepsy v1.172 ALPL Rebecca Foulger commented on gene: ALPL: PMID:27086862 (2018) report a female infantile hypophosphatasia patient who presented with pyridoxine-responsive myoclonic seizures and a novel homozygous mutation in the ALPL gene(c.799_804delCACTTC). Parents were heterozygous for the variant.
Early onset or syndromic epilepsy v1.172 ALPL Rebecca Foulger Publications for gene: ALPL were set to 11999978; 28802630; 23479201
Early onset or syndromic epilepsy v1.147 ALPL Rebecca Foulger Added comment: Comment on publications: ALPL is called by its alias TNSALP in many publications.
Early onset or syndromic epilepsy v1.147 ALPL Rebecca Foulger Publications for gene: ALPL were set to
Early onset or syndromic epilepsy ALPL Sarah Leigh marked gene: ALPL as ready
Early onset or syndromic epilepsy ALPL Sarah Leigh classified ALPL as Green List (high evidence)
Early onset or syndromic epilepsy ALPL Arianna Tucci reviewed gene: ALPL
Early onset or syndromic epilepsy ALPL Sarah Leigh Added gene to panel