This Panel is marked as Internal
Neuromuscular arthrogryposis
Gene: GMPPB
GMPPB (GDP-mannose pyrophosphorylase B)
EnsemblGeneIds (GRCh38): ENSG00000173540
EnsemblGeneIds (GRCh37): ENSG00000173540
OMIM: 615320, Gene2Phenotype
GMPPB is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000173540
EnsemblGeneIds (GRCh37): ENSG00000173540
OMIM: 615320, Gene2Phenotype
GMPPB is in 18 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating from Michael Oldridge (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust), submitted by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 28 Apr 2019, 6:36 p.m.
Michael Oldridge (NHS)
2 patientsCreated: 28 Apr 2019, 6:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Amber
- Wessex and West Midlands GLH
- OMIM
- 615320
- Clinvar variants
- Variants in GMPPB
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Congenital disorders of glycosylation
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Congenital myaesthenic syndrome
- Cerebellar hypoplasia
- Undiagnosed metabolic disorders
- Ataxia and cerebellar anomalies - narrow panel
- Arthrogryposis
- Malformations of cortical development
- Childhood onset dystonia, chorea or related movement disorder
- Hydrocephalus
- Rhabdomyolysis and metabolic muscle disorders
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Fetal anomalies
- DDG2P
- Acute rhabdomyolysis
- Congenital muscular dystrophy
History Filter Activity
16 May 2019, Gel status: 2
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to GMPPB.
28 Apr 2019, Gel status: 2
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to GMPPB. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
28 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications
Louise Daugherty (Genomics England Curator)gene: GMPPB was added gene: GMPPB was added to Neuromuscular arthrogryposis. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GMPPB were set to 30257713