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  3. GMPPB
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Rhabdomyolysis and Metabolic Myopathy

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

3 reviews

Sangavi Sivagnanasundram (Melbourne Health)

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

Created: 5 Sep 2024, 3:04 a.m.
Last Modified: 5 Sep 2024, 3:04 a.m.
Panel version: Imported from Mendeliome panel version 1.1980

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

Created: 19 May 2022, 10:20 a.m.
Last Modified: 19 May 2022, 10:20 a.m.
Panel version: Imported from Mendeliome panel version 0.14611

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Three unrelated cases reported with rhabdomyolysis.
Sources: Expert list
Created: 28 May 2020, 9:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 MIM#615352; Limb myalgia; exercise intolerance; myoglobinuria

Publications

Created: 28 May 2020, 9:10 a.m.

Panel version: 0.21

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 MIM#615352
  • Limb myalgia
  • exercise intolerance
  • myoglobinuria
OMIM
615320
Clinvar variants
Variants in GMPPB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gmppb has been classified as Green List (High Evidence).

28 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gmppb has been classified as Green List (High Evidence).

28 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: GMPPB was added gene: GMPPB was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GMPPB were set to 28456886; 27874200; 25681410 Phenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 MIM#615352; Limb myalgia; exercise intolerance; myoglobinuria Review for gene: GMPPB was set to GREEN