Rhabdomyolysis and metabolic muscle disorders
Gene: GMPPB
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 2:55 p.m. | Last Modified: 1 Feb 2023, 2:55 p.m.
Panel Version: 2.5
Associated with relevant phenotype in OMIM, but not associated with the phenotype in Gen2Phen (although it has a confirmed association with OMIM:615350). At least nine variants reported in at least eight cases, supportive functional studies were also presented (PMID 23768512;26133662).Created: 2 Sep 2021, 4:51 p.m. | Last Modified: 2 Sep 2021, 4:51 p.m.
Panel Version: 1.56
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 2 Sep 2021, 4:36 p.m. | Last Modified: 2 Sep 2021, 4:36 p.m.
Panel Version: 1.56
Three unrelated cases reported with rhabdomyolysis in the context of this muscle disorder.
Sources: Expert listCreated: 7 Oct 2020, 10:47 p.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
Variants in this GENE are reported as part of current diagnostic practice
Tag Q3_21_rating was removed from gene: GMPPB.
Source Expert Review Green was added to GMPPB. Source NHS GMS was added to GMPPB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q3_21_rating tag was added to gene: GMPPB.
Gene: gmppb has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352; autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352; autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142
Publications for gene: GMPPB were set to 28456886; 27874200; 25681410; 26133662; 23768512
Publications for gene: GMPPB were set to 28456886; 27874200; 25681410
Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 MIM#615352; Limb myalgia; exercise intolerance; myoglobinuria to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352; autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142
gene: GMPPB was added gene: GMPPB was added to Rhabdomyolysis and metabolic muscle disorders. 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 gene: GMPPB was marked as current diagnostic