Intellectual disability update Jan 2018
Gene: GMPPBEnsemblGeneIds (GRCh38): ENSG00000173540
EnsemblGeneIds (GRCh37): ENSG00000173540
OMIM: 615320, Gene2Phenotype
GMPPB is in 18 panels
2 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: There are sufficient cases for causation, with the majority presenting in infancy with hypotonia, delay, raised CK. The diagnosis may be made primarily through this route, however there is sufficient phenotypic overlap with this panel for inclusion.Created: 6 Mar 2018, 4:59 p.m.
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least two variants reported in one case of Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (615350)(associated with severe mental retardation), three in four cases of Muscular dystrophy-dystroglycanopathy (congenital with mental retardation)(associated with mild to severe mental retardation), type B, 14 (615351) and five in Muscular dystrophy-dystroglycanopathy (limb-girdle)(associated with mild mental retardation in some cases), type C, 14 615352.
Reported as a gene linked to isolated ID and ID associated disorders (Vissers 2016 PMID 26503795) and as an ID candidate gene (Gilessen 2014 PMID 24896178)Created: 5 Mar 2018, 3:06 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- 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
- OMIM
- 615320
- Clinvar variants
- Variants in GMPPB
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Congenital disorders of glycosylation
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Congenital myaesthenic syndrome
- Cerebellar hypoplasia
- Undiagnosed metabolic disorders
- Ataxia and cerebellar anomalies - narrow panel
- Arthrogryposis
- Malformations of cortical development
- Childhood onset dystonia, chorea or related movement disorder
- Hydrocephalus
- Rhabdomyolysis and metabolic muscle disorders
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Fetal anomalies
- DDG2P
- Acute rhabdomyolysis
- Congenital muscular dystrophy
History Filter Activity
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for GMPPB were set to 23768512; 26503795; 24896178
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for GMPPB was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
Added New Source
Ellen McDonagh (Genomics England Curator)GMPPB was added to Intellectual disability update Jan 2018 panel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red
Created
Ellen McDonagh (Genomics England Curator)GMPPB was created by Ellen McDonagh