Malformations of cortical development
Gene: GMPPB
GMPPB (GDP-mannose pyrophosphorylase B)
EnsemblGeneIds (GRCh38): ENSG00000173540
EnsemblGeneIds (GRCh37): ENSG00000173540
OMIM: 615320, Gene2Phenotype
GMPPB is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000173540
EnsemblGeneIds (GRCh37): ENSG00000173540
OMIM: 615320, Gene2Phenotype
GMPPB is in 18 panels
1 review
Alice Gardham (Genomics England)
Only reported in one familyCreated: 19 Dec 2016, 2:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350
- OMIM
- 615320
- Clinvar variants
- Variants in GMPPB
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cerebellar hypoplasia
- Ataxia and cerebellar anomalies - childhood onset
- Undiagnosed metabolic disorders
- Malformations of cortical development
- Congenital myaesthenic syndrome
- Fetal anomalies
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Rhabdomyolysis and metabolic muscle disorders
- Hydrocephalus
- Congenital disorders of glycosylation
- Intellectual disability
- Arthrogryposis
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Bilateral congenital or childhood onset cataracts
- Acute rhabdomyolysis
- DDG2P
- Congenital muscular dystrophy
History Filter Activity
19 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
19 Dec 2016, Gel status: 1
Added New Source
Alice Gardham (Genomics England)GMPPB was added to Malformations of cortical developmentpanel. Sources: Radboud University Medical Center, Nijmegen
19 Dec 2016, Gel status: 0
Created
Alice Gardham (Genomics England)GMPPB was created by agardham