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Congenital muscular dystrophy v3.41 DPM3 Arina Puzriakova Source was removed from DPM3.
Congenital muscular dystrophy v3.40 DPM3 Arina Puzriakova Phenotypes for gene: DPM3 were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, OMIM:612937; DPM3-congenital disorder of glycosylation, MONDO:0013049; ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, OMIM:618992; muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15, MONDO:0033556 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, OMIM:612937; ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, OMIM:618992
Congenital muscular dystrophy v3.20 DPM3 Sarah Leigh Deleted their comment
Congenital muscular dystrophy v3.20 DPM3 Sarah Leigh Classified gene: DPM3 as Amber List (moderate evidence)
Congenital muscular dystrophy v3.20 DPM3 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital muscular dystrophy v3.20 DPM3 Sarah Leigh Gene: dpm3 has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v3.19 DPM3 Sarah Leigh Tag Q1_23_promote_green tag was added to gene: DPM3.
Tag Q1_23_NHS_review tag was added to gene: DPM3.
Congenital muscular dystrophy v3.19 DPM3 Sarah Leigh edited their review of gene: DPM3: Added comment: A green rating has been recommended based on the review from Anna Sarkozy (Great Ormond Street Hospital)(10 Nov 2022) and consultation with Helen Brittain (Clinical Fellow, Genomics England).; Changed rating: GREEN
Congenital muscular dystrophy v3.19 DPM3 Sarah Leigh Classified gene: DPM3 as Amber List (moderate evidence)
Congenital muscular dystrophy v3.19 DPM3 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital muscular dystrophy v3.19 DPM3 Sarah Leigh Gene: dpm3 has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v3.18 DPM3 Sarah Leigh Phenotypes for gene: DPM3 were changed from congenital muscular dystrophies; Congenital disorder of glycosylation, type Io, 612937'Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, OMIM:612937; DPM3-congenital disorder of glycosylation, MONDO:0013049; ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, OMIM:618992; muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15, MONDO:0033556
Congenital muscular dystrophy v3.12 DPM3 Sarah Leigh Publications for gene: DPM3 were set to 19576565
Congenital muscular dystrophy v2.31 DPM3 Anna Sarkozy reviewed gene: DPM3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19576565, 35932216, 33200426, 31266720; Phenotypes: Congenital muscular dystrophy, secondary alpha-dystroglycanopathy, limb girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v2.30 DPM3 Arina Puzriakova commented on gene: DPM3
Congenital muscular dystrophy v2.29 DPM3 Arina Puzriakova Source Expert Review Red was added to DPM3.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Congenital muscular dystrophy v2.4 DPM3 Zornitza Stark reviewed gene: DPM3: Rating: RED; Mode of pathogenicity: None; Publications: 31469168, 31266720, 28803818; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937; Mode of inheritance: None
Congenital muscular dystrophy v1.65 DPM3 Louise Daugherty commented on gene: DPM3: 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 v1.65 DPM3 Louise Daugherty Phenotypes for gene: DPM3 were changed from congenital muscular dystrophies; Congenital disorder of glycosylation, type Io 612937 to congenital muscular dystrophies; Congenital disorder of glycosylation, type Io, 612937'Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937
Congenital muscular dystrophy v1.43 DPM3 Louise Daugherty reviewed gene: DPM3: 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 DPM3 Rachael Mein reviewed gene: DPM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19576565; Phenotypes: Congenital muscular dystrophies, Congenital disorder of glycosylation, type Io 612937; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital muscular dystrophy v1.23 DPM3 Louise Daugherty Source NHS GMS was added to DPM3.
Congenital muscular dystrophy v1.22 DPM3 Louise Daugherty Source London South GLH was added to DPM3.
Congenital muscular dystrophy DPM3 Ellen McDonagh marked DPM3 as ready
Congenital muscular dystrophy DPM3 Ellen McDonagh classified DPM3 as amber
Congenital muscular dystrophy DPM3 Arianna Tucci reviewed DPM3
Congenital muscular dystrophy DPM3 Ellen McDonagh classified DPM3 as amber
Congenital muscular dystrophy DPM3 Ellen McDonagh commented on DPM3
Congenital muscular dystrophy DPM3 Emma Clement reviewed DPM3