Congenital muscular dystrophy
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
-
- NHS GMS
- London South GLH
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- 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
-
- 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 Source
Arina Puzriakova (Genomics England Curator)Source was removed from GMPPB.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM:615350; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM:615351; muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:0014141; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352; autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142 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
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: GMPPB were changed from 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 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM:615350; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM:615351; muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:0014141; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352; autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene GMPPB were changed from 23768512; 26133662 to 26133662; 23768512
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to GMPPB.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London South GLH was added to GMPPB. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27.01.2017 Panel revised after expert review and internal review with further curation.
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for GMPPB was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for GMPPB were set to 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
Set publications
Ellen McDonagh (Genomics England Curator)Publications for GMPPB were set to 23768512;26133662
Gene classified by Genomics England curator
Ellen McDonagh (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 Congenital muscular dystrophypanel. Source:
Added New Source
Ellen McDonagh (Genomics England Curator)GMPPB was added to Congenital muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen