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Congenital muscular dystrophy v3.38 DPM1 Arina Puzriakova Source was removed from DPM1.
Congenital muscular dystrophy v2.12 DPM1 Arina Puzriakova Phenotypes for gene: DPM1 were changed from congenital muscular dystrophies; Congenital disorder of glycosylation, type Ie 608799 to Congenital disorder of glycosylation, type Ie, OMIM:608799
Congenital muscular dystrophy v2.11 DPM1 Arina Puzriakova Publications for gene: DPM1 were set to 23109149; 23856421
Congenital muscular dystrophy v2.10 DPM1 Arina Puzriakova Tag watchlist tag was added to gene: DPM1.
Congenital muscular dystrophy v2.10 DPM1 Arina Puzriakova reviewed gene: DPM1: Rating: AMBER; Mode of pathogenicity: None; Publications: 10642597, 10642602, 15669674, 16641202, 23856421, 27481510, 28139241, 30653653; Phenotypes: Congenital disorder of glycosylation, type Ie, OMIM:608799; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v2.4 DPM1 Zornitza Stark reviewed gene: DPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23856421, 16641202, 10642602, 10642597; Phenotypes: Congenital disorder of glycosylation, type Ie 608799; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.65 DPM1 Louise Daugherty commented on gene: DPM1: Only one case reported with variants in this gene and CMD, not sure it fulfils the criteria to be a green gene. Provisional rated Amber pending further cases or expert opinion.
Congenital muscular dystrophy v1.44 DPM1 Louise Daugherty Publications for gene DPM1 were changed from 23856421; 23109149 to 23109149; 23856421
Congenital muscular dystrophy v1.43 DPM1 Louise Daugherty reviewed gene: DPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.25 DPM1 Louise Daugherty Publications for gene: DPM1 were set to 23856421 - an infant with the phenotype of a congenital muscular dystrophy, with borderline microcephaly, hypotonia, camptodactyly, severe motor delay, and elevated creatine kinase. Muscle biopsy showed muscular dystrophy and reduced α-dystroglycan immunostaining with glycoepitope-specific antibodies in a pattern diagnostic of dystroglycanopathy. The infant was compound heterozygous for a novel missense variant and an intragenic deletion from exons 3-7. In vitro studies showed decreased DPM1 activity in fibroblasts, and reduced binding to DPM3; 23109149 - DPM2-CDG links the congenital disorders of glycosylation to the congenital muscular dystrophies
Congenital muscular dystrophy v1.24 DPM1 Rachael Mein reviewed gene: DPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23856421, 23109149; Phenotypes: congenital muscular dystrophies, Congenital disorder of glycosylation, type Ie 608799; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.23 DPM1 Louise Daugherty Source NHS GMS was added to DPM1.
Congenital muscular dystrophy v1.22 DPM1 Louise Daugherty Source London South GLH was added to DPM1.
Congenital muscular dystrophy DPM1 Ellen McDonagh marked DPM1 as ready
Congenital muscular dystrophy DPM1 Ellen McDonagh classified DPM1 as amber
Congenital muscular dystrophy DPM1 Arianna Tucci reviewed DPM1
Congenital muscular dystrophy DPM1 Ellen McDonagh classified DPM1 as amber
Congenital muscular dystrophy DPM1 Ellen McDonagh commented on DPM1
Congenital muscular dystrophy DPM1 Ellen McDonagh classified DPM1 as amber
Congenital muscular dystrophy DPM1 Emma Clement reviewed DPM1