Rhabdomyolysis and metabolic muscle disorders
Gene: GMPPBEnsemblGeneIds (GRCh38): ENSG00000173540
EnsemblGeneIds (GRCh37): ENSG00000173540
OMIM: 615320, Gene2Phenotype
GMPPB is in 18 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
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
Sarah Leigh (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352
- autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142
- OMIM
- 615320
- Clinvar variants
- Variants in GMPPB
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- Undiagnosed metabolic disorders
- Congenital muscular dystrophy
- Intellectual disability
- Congenital myaesthenic syndrome
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- DDG2P
- Cerebellar hypoplasia
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Congenital disorders of glycosylation
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- Arthrogryposis
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_21_rating was removed from gene: GMPPB.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)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)
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_21_rating tag was added to gene: GMPPB.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: gmppb has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: GMPPB were set to 28456886; 27874200; 25681410; 26133662; 23768512
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: GMPPB were set to 28456886; 27874200; 25681410
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)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