Malformations of cortical development
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
1 review
Alice Gardham (Genomics England)
6 unrelated patients identified. Recognised on G2PCreated: 19 Dec 2016, 2:36 p.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, type A, 11 615181
- OMIM
- 610194
- Clinvar variants
- Variants in B3GALNT2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Congenital disorders of glycosylation
- Cerebellar hypoplasia
- Structural eye disease
- Likely inborn error of metabolism
- Malformations of cortical development
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Arthrogryposis
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Congenital muscular dystrophy
- Fetal anomalies
- Bilateral congenital or childhood onset cataracts
History Filter Activity
19 Dec 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
19 Dec 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
19 Dec 2016, Gel status: 2
Added New Source
Alice Gardham (Genomics England)B3GALNT2 was added to Malformations of cortical developmentpanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
19 Dec 2016, Gel status: 0
Created
Alice Gardham (Genomics England)B3GALNT2 was created by agardham