Previous cardiomyopathies - including childhood onset
Gene: DPM2Checked against the component panels and ready to promote to version 1.
Added phenotypes Congenital disorder of glycosylation, type Iu 615042; musclular dystrophy dystroglycanopathy syndrome with severe epilepsy for gene: DPM2 Publications for gene DPM2 were changed from 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 -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 to 23109149; 19901254
gene: DPM2 was added gene: DPM2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green Mode of inheritance for gene: DPM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPM2 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 -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 Phenotypes for gene: DPM2 were set to Congenital disorder of glycosylation, type Iu 615042; Congenital disorder of glycosylation, type Iu 615042