Congenital Disorders of Glycosylation
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)
Well established gene-disease association.Created: 20 Dec 2020, 7:11 a.m. | Last Modified: 20 Dec 2020, 7:11 a.m.
Panel Version: 0.315
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350)
- Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351)
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352)
- 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
Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)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 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352)
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 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
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: GMPPB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GMPPB was set to Unknown