This Panel is marked as Deleted
Arthrogryposis Victorian Clinical Genetics Services
Gene: B4GAT1
B4GAT1 (beta-1,4-glucuronyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000174684
EnsemblGeneIds (GRCh37): ENSG00000174684
OMIM: 605517, Gene2Phenotype
B4GAT1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000174684
EnsemblGeneIds (GRCh37): ENSG00000174684
OMIM: 605517, Gene2Phenotype
B4GAT1 is in 10 panels
1 review
Sarah Leigh (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- OMIM
- 605517
- Clinvar variants
- Variants in B4GAT1
- Penetrance
- None
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Cerebellar hypoplasia
- Bilateral congenital or childhood onset cataracts
- Fetal anomalies
- Ataxia and cerebellar anomalies - narrow panel
- Arthrogryposis
- Malformations of cortical development
- Congenital muscular dystrophy
- Hydrocephalus
History Filter Activity
25 Jun 2018, Gel status: 3
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: b4gat1 has been classified as Green List (High Evidence).
25 Jun 2018, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)B4GAT1 was added to Arthrogryposis Victorian Clinical Genetics Services panel. Sources: Expert Review
25 Jun 2018, Gel status: 1
Created
Sarah Leigh (Genomics England Curator)B4GAT1 was created by Sarah Leigh