B3GNT2

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
OMIM: 605581, Gene2Phenotype

1 panel

Panel	Reviews	Mode of inheritance	Details
Amber B3GNT2 in Hydrocephalus Version 4.6 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Other Phenotypes muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13, MONDO:0014120 Tags watchlist

Panel

Reviews

Mode of inheritance

Details

Version 4.6
Latest signed off version: v4.0 (22 Mar 2023)

review

BIALLELIC, autosomal or pseudoautosomal

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13, MONDO:0014120