Congenital muscular dystrophy and congenital myopathy
Gene: GMPPBEnsemblGeneIds (GRCh38): ENSG00000173540
EnsemblGeneIds (GRCh37): ENSG00000173540
OMIM: 615320, Gene2Phenotype
GMPPB is in 18 panels
4 reviews
Louise Daugherty (Genomics England Curator)
Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.Created: 29 Apr 2019, 3:37 p.m.
Rachael Mein (Viapath at Guy's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
Publications
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to expert review and evidence, is a green gene on the Congenital disorders of glycosylation version 1.0 and Limb girdle muscular dystrophy version 1.0 gene panels.Created: 6 Jan 2017, 9:32 a.m.
Emma Clement (Great Ormond Street Hospital)
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London South GLH
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- NHS GMS
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, OMIM:615350
- Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14, OMIM:615351
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, OMIM:615352
- OMIM
- 615320
- Clinvar variants
- Variants in GMPPB
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cerebellar hypoplasia
- Acute rhabdomyolysis
- Congenital myaesthenic syndrome
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Rhabdomyolysis and metabolic muscle disorders
- Hydrocephalus
- Bilateral congenital or childhood onset cataracts
- Malformations of cortical development
- Likely inborn error of metabolism
- Intellectual disability
- Arthrogryposis
- Congenital muscular dystrophy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Congenital disorders of glycosylation
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: GMPPB was added gene: GMPPB was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,London South GLH Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GMPPB were set to 26133662; 23768512 Phenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, OMIM:615350; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14, OMIM:615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, OMIM:615352 Penetrance for gene: GMPPB were set to Complete