This Panel is marked as Deleted
Arthrogryposis Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 610194
- Clinvar variants
- Variants in B3GALNT2
- Penetrance
- None
- Panels with this gene
-
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Cerebellar hypoplasia
- Undiagnosed metabolic disorders
- Ataxia and cerebellar anomalies - narrow panel
- Arthrogryposis
- Malformations of cortical development
- Structural eye disease
- Hydrocephalus
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Fetal anomalies
- DDG2P
- Congenital muscular dystrophy
History Filter Activity
21 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)B3GALNT2 was added to Arthrogryposis Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
21 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)B3GALNT2 was created by Sarah Leigh