Muscular dystrophy and myopathy_Paediatric

Gene: GMPPB

Green List (high evidence)

GMPPB (GDP-mannose pyrophosphorylase B)
EnsemblGeneIds (GRCh38): ENSG00000173540
EnsemblGeneIds (GRCh37): ENSG00000173540
OMIM: 615320, Gene2Phenotype
GMPPB is in 15 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 cases with various types of muscular dystrophy, paediatric onset
Sources: Expert Review
Created: 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

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