Congenital Myasthenia
Gene: GMPPBEnsemblGeneIds (GRCh38): ENSG00000173540
EnsemblGeneIds (GRCh37): ENSG00000173540
OMIM: 615320, Gene2Phenotype
GMPPB is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Variants in this gene are classically associated with muscular dystrophy-dystroglycanopathy. However, clinical features overlap significantly with myasthenia as reported in this series of 8 individuals from 6 families. Response to pyridostigimine alone or combined with 3,4-diaminopyridine and/or salbutamol reported.Created: 24 Oct 2020, 8:38 a.m. | Last Modified: 24 Oct 2020, 8:38 a.m.
Panel Version: 0.36
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myasthenic syndrome
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gmppb has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: GMPPB was added gene: GMPPB was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome