Activity

Filter

Cancel
Date Panel Item Activity
14 actions
Limb girdle muscular dystrophy v1.179 BVES Ellen McDonagh changed review comment from: Comment on list classification: This gene will remain Red due to overall majority of Green reviews and clinical comments from GLH representatives.; to: Comment on list classification: This gene will remain Red due to overall majority of Red reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.179 BVES Ellen McDonagh Classified gene: BVES as Red List (low evidence)
Limb girdle muscular dystrophy v1.179 BVES Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.179 BVES Ellen McDonagh Gene: bves has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophy v1.97 BVES Chiara Marini Bettolo edited their review of gene: BVES: Added comment: only reported in one family; Changed rating: RED
Limb girdle muscular dystrophy v1.85 BVES Louise Daugherty Source Yorkshire and North East GLH was added to BVES.
Limb girdle muscular dystrophy v1.74 BVES Louise Daugherty Phenotypes for gene: BVES were changed from Muscular dystrophy, limb-girdle, type 2X 616812 to Muscular dystrophy, limb-girdle, type 2X, 616812; limb girdle muscular dystrophy; cardiac arrhythmia
Limb girdle muscular dystrophy v1.46 BVES Chiara Marini Bettolo reviewed gene: BVES: Rating: GREEN; Mode of pathogenicity: None; Publications: 26642364; Phenotypes: limb girdle muscular dystrophy, cardiac arrhythmia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.46 BVES Louise Daugherty reviewed gene: BVES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophy v1.22 BVES Natalie Forrester reviewed gene: BVES: Rating: RED; Mode of pathogenicity: ; Publications: 26642364; Phenotypes: Muscular dystrophy, limb-girdle, type 2X, 616812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.20 BVES Louise Daugherty Source NHS GMS was added to BVES.
Limb girdle muscular dystrophy v1.19 BVES Louise Daugherty Source South West GLH was added to BVES.
Limb girdle muscular dystrophy v1.15 BVES Elizabeth Harris commented on gene: BVES: initially given and LGMD classification but recent international expert review of the LGMD genes and nomenclature (PMID: 30055862) deemed that given that this has only been reported in one family that this could not justify an official LGMD designation, however the clinical overlap and likelihood of identifying additional affected individuals with LGMD presentation justifies inclusion in this panel.
Limb girdle muscular dystrophy v1.15 BVES Elizabeth Harris reviewed gene: BVES: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26642364; Phenotypes: limb girdle muscular dystrophy, cardiac arrhythmia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal