Cerebellar hypoplasia
Gene: GMPPBEnsemblGeneIds (GRCh38): ENSG00000173540
EnsemblGeneIds (GRCh37): ENSG00000173540
OMIM: 615320, Gene2Phenotype
GMPPB is in 18 panels
1 review
Alice Gardham (Genomics England)
Recognised on G2P and offered as diagnostic test on UKGTNCreated: 16 Nov 2016, 10:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Literature
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
- 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
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)22/02/2017: Panel revised after internal clinical review and further curation.
Set publications
Alice Gardham (Genomics England)Publications for GMPPB were set to 23768512
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for GMPPB was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Upload gene information
Alice Gardham (Genomics England)GMPPB was added to Cerebellar hypoplasiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Literature
Added New Source
Ellen McDonagh (Genomics England Curator)GMPPB was added to Cerebellar hypoplasiapanel. Sources: Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)GMPPB was created by ellenmcdonagh