Cerebellar hypoplasia

Gene: B4GAT1

Amber List (moderate evidence)

B4GAT1 (beta-1,4-glucuronyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000174684
EnsemblGeneIds (GRCh37): ENSG00000174684
OMIM: 605517, Gene2Phenotype
B4GAT1 is in 11 panels

1 review

Alice Gardham (Genomics England)

I don't know

Only one family. Supported by zebrafish model. Offered on UKGTN. not on G2P
Created: 14 Nov 2016, 3:35 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Literature
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
OMIM
605517
Clinvar variants
Variants in B4GAT1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

14 Nov 2016, Gel status: 2

Added New Source

Alice Gardham (Genomics England)

B4GAT1 was added to Cerebellar hypoplasiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Literature

14 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

B4GAT1 was created by agardham