Activity

Filter

Cancel
Date Panel Item Activity
42 actions
Early onset or syndromic epilepsy v4.133 MAGI2 Sarah Leigh commented on gene: MAGI2: Sarah Leigh commented on gene: MAGI2: Clingen refuted association with epilepsy https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7d622b88-9c77-47f8-93b1-808517da0cff-2023-10-17T190000.000Z?page=1&size=25&search=
Early onset or syndromic epilepsy v4.133 MAGI2 Sarah Leigh Deleted their comment
Early onset or syndromic epilepsy v4.133 MAGI2 Sarah Leigh Tag disputed was removed from gene: MAGI2.
Tag refuted tag was added to gene: MAGI2.
Early onset or syndromic epilepsy v4.133 MAGI2 Sarah Leigh commented on gene: MAGI2: Clingen refuted association with epilepsy https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7d622b88-9c77-47f8-93b1-808517da0cff-2023-10-17T190000.000Z?page=1&size=25&search=
Early onset or syndromic epilepsy v4.112 MAGI2 Arina Puzriakova Tag disputed tag was added to gene: MAGI2.
Early onset or syndromic epilepsy v4.112 MAGI2 Arina Puzriakova Tag Q1_23_demote_red was removed from gene: MAGI2.
Early onset or syndromic epilepsy v4.110 MAGI2 Arina Puzriakova reviewed gene: MAGI2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v4.109 MAGI2 Arina Puzriakova Source Expert Review Red was added to MAGI2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset or syndromic epilepsy v4.87 MAGI2 Zornitza Stark commented on gene: MAGI2: In addition, note the gene-disease relationship to epilepsy has been assessed as DISPUTED by ClinGen.
Early onset or syndromic epilepsy v3.70 MAGI2 Sarah Leigh changed review comment from: Comment on list classification: There is not enough evidence for this gene to be rated GREEN at the next major review.; to: Comment on list classification: There is not enough evidence for this gene to be rated GREEN on this panel.
Early onset or syndromic epilepsy v3.70 MAGI2 Sarah Leigh Classified gene: MAGI2 as Green List (high evidence)
Early onset or syndromic epilepsy v3.70 MAGI2 Sarah Leigh Added comment: Comment on list classification: There is not enough evidence for this gene to be rated GREEN at the next major review.
Early onset or syndromic epilepsy v3.70 MAGI2 Sarah Leigh Gene: magi2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v3.69 MAGI2 Sarah Leigh Tag Q1_23_demote_red tag was added to gene: MAGI2.
Early onset or syndromic epilepsy v3.69 MAGI2 Sarah Leigh edited their review of gene: MAGI2: Added comment: The association of MAGI2 deletions with epilepsy is disputed according to the ClinGen Epilepsy Gene Curation Expert Panel report (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7d622b88-9c77-47f8-93b1-808517da0cff-2018-06-19T160000.000Z?page=1&size=25&search= ). This expert panel outlines that although some of the deletions seen in epilepsy patients encompases MAGI2, other do not, suggesting the presence of another locus responsible for the epilepsy. Furthermore, no single-gene deletions or single nucleotide variants have been reported in MAGI2 in individuals with epilepsy.; Changed rating: RED
Early onset or syndromic epilepsy v3.69 MAGI2 Sarah Leigh Publications for gene: MAGI2 were set to 18565486; 27932480; 21694734
Early onset or syndromic epilepsy v3.68 MAGI2 Sarah Leigh Publications for gene: MAGI2 were set to 18565486; 27932480
Early onset or syndromic epilepsy v2.0 MAGI2 Zornitza Stark reviewed gene: MAGI2: Rating: RED; Mode of pathogenicity: None; Publications: 31056551; Phenotypes: Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.281 MAGI2 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 (AD inheritance was based on deletions including the MAGI2 gene).
Early onset or syndromic epilepsy v1.281 MAGI2 Rebecca Foulger Mode of inheritance for gene: MAGI2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.280 MAGI2 Rebecca Foulger changed review comment from: Comment on mode of inheritance: OMIM lists AR inheritance for 'Nephrotic syndrome, type 15' (MIM:617609). Gene2Phenotype lists 'monoallelic' inheritance for EARLY ONSET EPILEPTIC ENCEPHALOPATHY.; to: Comment on mode of inheritance: OMIM lists AR inheritance for 'Nephrotic syndrome, type 15' (MIM:617609). Gene2Phenotype lists 'monoallelic' inheritance for EARLY ONSET EPILEPTIC ENCEPHALOPATHY based on PMID:18565486 which examines deletions spanning MAGI2.
Early onset or syndromic epilepsy v1.262 MAGI2 Rebecca Foulger commented on gene: MAGI2: 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 MAGI2 Helen Lord reviewed gene: MAGI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.207 MAGI2 Rebecca Foulger Added comment: Comment on mode of inheritance: OMIM lists AR inheritance for 'Nephrotic syndrome, type 15' (MIM:617609). Gene2Phenotype lists 'monoallelic' inheritance for EARLY ONSET EPILEPTIC ENCEPHALOPATHY.
Early onset or syndromic epilepsy v1.207 MAGI2 Rebecca Foulger Mode of inheritance for gene: MAGI2 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 MAGI2 Rebecca Foulger Source Wessex and West Midlands GLH was added to MAGI2.
Early onset or syndromic epilepsy v1.190 MAGI2 Rebecca Foulger Source NHS GMS was added to MAGI2.
Early onset or syndromic epilepsy v1.189 MAGI2 Rebecca Foulger reviewed gene: MAGI2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 MAGI2 Tracy Lester reviewed gene: MAGI2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27932480, 18565486 ; Phenotypes: Nephrotic syndrome, type 15, 617609; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.587 MAGI2 Sarah Leigh Publications for gene: MAGI2 were set to 18565486
Early onset or syndromic epilepsy v0.586 MAGI2 Sarah Leigh Mode of inheritance for gene: MAGI2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.585 MAGI2 Sarah Leigh Phenotypes for gene: MAGI2 were changed from Infantile Spasms to Nephrotic syndrome, type 15 617609; Infantile Spasms
Early onset or syndromic epilepsy v0.584 MAGI2 Sarah Leigh Classified gene: MAGI2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.584 MAGI2 Sarah Leigh Gene: magi2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.583 MAGI2 Sarah Leigh Added comment: Comment on mode of inheritance: According to report of homozygous and compound heterozygous variants in OMIM, Gen2Phen reports as monoallelic.
Early onset or syndromic epilepsy v0.583 MAGI2 Sarah Leigh Mode of inheritance for gene: MAGI2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.486 MAGI2 Sarah Leigh Marked gene: MAGI2 as ready
Early onset or syndromic epilepsy v0.486 MAGI2 Sarah Leigh Gene: magi2 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.486 MAGI2 Sarah Leigh Added comment: Comment on phenotypes: Biallelic frame shifting truncating variants associated with Nephrotic syndrome, type 15 617609
Early onset or syndromic epilepsy v0.486 MAGI2 Sarah Leigh Phenotypes for gene: MAGI2 were changed from Infantile Spasms to Infantile Spasms
Early onset or syndromic epilepsy v0.485 MAGI2 Sarah Leigh Tag cnv tag was added to gene: MAGI2.
Early onset or syndromic epilepsy MAGI2 Sarah Leigh Added gene to panel