Genomics England
GMS Panels
Panels
Genes and Entities

B4GAT1

beta-1,4-glucuronyltransferase 1
OMIM: 605517
PanelMode of inheritanceDetails
6 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 6.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287
Green
in Congenital muscular dystrophy and congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R432
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287