Structural eye disease
Gene: B3GALNT2EnsemblGeneIds (GRCh38): ENSG00000162885
EnsemblGeneIds (GRCh37): ENSG00000162885
OMIM: 610194, Gene2Phenotype
B3GALNT2 is in 16 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Stevens reported seven cases with muscular dystrophy with eye and brain anomalies with homozygous or compound heterozygous variants in B3GALNT2, two of these cases had microphthalmia and another two had optic nerve hypoplasia. Zebrafish model had retinal degenerationCreated: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mariya Moosajee (Moorfields Eye Hospital)
Phenotypes
Muscular Dystrophy-Dystroglycanopathy, Type A, 11,
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- London North GLH
- Phenotypes
-
- Muscular Dystrophy-Dystroglycanopathy, Type A, 11, 615181
- OMIM
- 610194
- Clinvar variants
- Variants in B3GALNT2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Cerebellar hypoplasia
- Undiagnosed metabolic disorders
- Structural eye disease
- Ataxia and cerebellar anomalies - narrow panel
- Arthrogryposis
- Malformations of cortical development
- 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
Added New Source, Added New Source, Set publications, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to B3GALNT2. Source NHS GMS was added to B3GALNT2. Publications for gene B3GALNT2 were changed from to 23453667 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: b3galnt2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: B3GALNT2 was added gene: B3GALNT2 was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B3GALNT2 were set to Muscular Dystrophy-Dystroglycanopathy, Type A, 11, 615181