Muscular dystrophy and myopathy_Paediatric
Gene: GMPPB
GMPPB (GDP-mannose pyrophosphorylase B)
EnsemblGeneIds (GRCh38): ENSG00000173540
EnsemblGeneIds (GRCh37): ENSG00000173540
OMIM: 615320, Gene2Phenotype
GMPPB is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000173540
EnsemblGeneIds (GRCh37): ENSG00000173540
OMIM: 615320, Gene2Phenotype
GMPPB is in 15 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
>3 cases with various types of muscular dystrophy, paediatric onset
Sources: Expert ReviewCreated: 24 Feb 2020, 5:43 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 MIM#615350; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 MIM#615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 MIM#615352
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 615320
- Clinvar variants
- Variants in GMPPB
- Penetrance
- None
- Panels with this gene
-
- Cerebellar and Pontocerebellar Hypoplasia
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Congenital Myasthenia
- Prepair 1000+
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Muscular dystrophy and myopathy_Paediatric
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Congenital Disorders of Glycosylation
- Fetal anomalies
- Lissencephaly and Band Heterotopia
- Arthrogryposis
- Mendeliome
- Callosome
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GMPPB was added gene: GMPPB was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GMPPB was set to Unknown