Ataxia and cerebellar anomalies - childhood onset
Gene: B3GALNT2
B3GALNT2 (beta-1,3-N-acetylgalactosaminyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000162885
EnsemblGeneIds (GRCh37): ENSG00000162885
OMIM: 610194, Gene2Phenotype
B3GALNT2 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000162885
EnsemblGeneIds (GRCh37): ENSG00000162885
OMIM: 610194, Gene2Phenotype
B3GALNT2 is in 16 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11
- congenital muscular dystrophies
- OMIM
- 610194
- Clinvar variants
- Variants in B3GALNT2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cerebellar hypoplasia
- Fetal anomalies
- Ataxia and cerebellar anomalies - childhood onset
- Undiagnosed metabolic disorders
- Malformations of cortical development
- Hereditary ataxia, adult onset
- DDG2P
- Hydrocephalus
- Congenital disorders of glycosylation
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Structural eye disease
- Arthrogryposis
- Congenital muscular dystrophy
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: B3GALNT2 was added gene: B3GALNT2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GALNT2 were set to 23453667 Phenotypes for gene: B3GALNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11; congenital muscular dystrophies