Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: GMPPB

Green List (high evidence)

Classified as DEFINITIVE by ClinGen Muscular Dystrophies and Myopathies VCEP on 13/08/2024 - https://search.clinicalgenome.org/CCID:004972

Biallelelic loss of function appears to be the mechanism of disease. Specifically the loss or alteration of the GDP-mannose pyrophosphorylase B protein causing a dysfunctional early step in the N-glycosylation, O-mannosylation, and C-mannosylation pathways which includes alpha-dystroglycan (PMID: 27147698)

p.Asp27His, founder variant - GrpMax in gnomAD v4.1 - NFE population 0.1%

Created: 5 Sep 2024, 3:04 a.m. | Last Modified: 5 Sep 2024, 3:04 a.m.

Panel Version: 1.1980

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
myopathy caused by variation in GMPPB MONDO:0700084

Publications

• 27147698

Green List (high evidence)

Well established gene-disease association.

Created: 19 May 2022, 10:20 a.m. | Last Modified: 19 May 2022, 10:20 a.m.

Panel Version: 0.14611

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

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

• 23768512