Muscular dystrophy and myopathy_Paediatric
Gene: DPM2
Two families reported only.Created: 11 Jul 2020, 5:13 a.m. | Last Modified: 11 Jul 2020, 5:13 a.m.
Panel Version: 0.55
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Iu, MIM# 615042
Publications
Two cases with muscular dystrophy
Sources: Expert ReviewCreated: 25 Feb 2020, 12:24 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Iu MIM#615042
Publications
Gene: dpm2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: DPM2 were changed from to Congenital disorder of glycosylation, type Iu, MIM# 615042
Publications for gene: DPM2 were set to
Mode of inheritance for gene: DPM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: dpm2 has been classified as Amber List (Moderate Evidence).
gene: DPM2 was added gene: DPM2 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DPM2 was set to Unknown