Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: GMPPBEnsemblGeneIds (GRCh38): ENSG00000173540
EnsemblGeneIds (GRCh37): ENSG00000173540
OMIM: 615320, Gene2Phenotype
GMPPB is in 18 panels
2 reviews
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, 4:52 p.m. | Last Modified: 2 Sep 2021, 4:52 p.m.
Panel Version: 2.25
Ellen Thomas (Genomics England Curator)
Comment on list classification: Often more severe but can present as non-syndromic condition.Created: 29 May 2016, 7:38 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- 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
- Complete
- Publications
- Panels with this gene
-
- Congenital disorders of glycosylation
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Congenital myaesthenic syndrome
- Childhood onset dystonia, chorea or related movement disorder
- Cerebellar hypoplasia
- Undiagnosed metabolic disorders
- Intellectual disability
- Ataxia and cerebellar anomalies - narrow panel
- Arthrogryposis
- Malformations of cortical development
- Hydrocephalus
- Fetal anomalies
- Likely inborn error of metabolism
- Rhabdomyolysis and metabolic muscle disorders
- Bilateral congenital or childhood onset cataracts
- DDG2P
- Acute rhabdomyolysis
- Congenital muscular dystrophy
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: GMPPB were set to 28456886; 27874200; 25681410; 26133662; 23768512
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
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352; autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for GMPPB was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)GMPPB was added to Limb girdle muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen