Congenital disorders of glycosylation
Gene: GMPPBEnsemblGeneIds (GRCh38): ENSG00000173540
EnsemblGeneIds (GRCh37): ENSG00000173540
OMIM: 615320, Gene2Phenotype
GMPPB is in 18 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment 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.
Daniel Ungar (University of York, Department of Biology)
muscular dystrophyCreated: 12 Dec 2016, 3 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- 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
- OMIM
- 615320
- Clinvar variants
- Variants in GMPPB
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal anomalies
- Undiagnosed metabolic disorders
- Congenital muscular dystrophy
- Intellectual disability
- Congenital myaesthenic syndrome
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- DDG2P
- Cerebellar hypoplasia
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Congenital disorders of glycosylation
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- Arthrogryposis
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: GMPPB were set to 23768512
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 19th December 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been removed from the panel.
Upload gene information
Sarah Leigh (Genomics England Curator)GMPPB was added to Congenital disorders of glycosylationpanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Created
Daniel Ungar (University of York, Department of Biology)GMPPB was created by ungardani
Added New Source
Daniel Ungar (University of York, Department of Biology)GMPPB was added to Congenital disorders of glycosylationpanel. Sources: Literature