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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. |
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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) |
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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 |