Congenital disorders of glycosylation
Gene: GMPPBComment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least two variants reported in Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350, three in Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 615351 and five in Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352.Created: 19 Dec 2016, 3:54 p.m.
muscular dystrophyCreated: 12 Dec 2016, 3 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM:615350; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM:615351; muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:0014141; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352; autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142
Publications for gene: GMPPB were set to 23768512
Promoted to V1 19th December 2016
This gene has been classified as Green List (High Evidence).
This gene has been removed from the panel.
GMPPB was added to Congenital disorders of glycosylationpanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
Phenotypes for GMPPB were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352
GMPPB was created by ungardani
GMPPB was added to Congenital disorders of glycosylationpanel. Sources: Literature