Cerebellar hypoplasia
Gene: B3GALNT2EnsemblGeneIds (GRCh38): ENSG00000162885
EnsemblGeneIds (GRCh37): ENSG00000162885
OMIM: 610194, Gene2Phenotype
B3GALNT2 is in 16 panels
1 review
Alice Gardham (Genomics England)
Mutation found in 6 unrelated individuals. Associated with PCH among other brain anomaliesCreated: 16 Nov 2016, 10:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 615181
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11
- congenital muscular dystrophies
- OMIM
- 610194
- Clinvar variants
- Variants in B3GALNT2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- DDG2P
- Cerebellar hypoplasia
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Congenital disorders of glycosylation
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- Structural eye disease
- Arthrogryposis
- Fetal anomalies
- Undiagnosed metabolic disorders
- Congenital muscular dystrophy
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
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 B3GALNT2 were set to 23453667
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for B3GALNT2 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).
Added New Source
Ellen McDonagh (Genomics England Curator)B3GALNT2 was added to Cerebellar hypoplasiapanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)B3GALNT2 was created by ellenmcdonagh