B4GALNT1

beta-1,4-N-acetyl-galactosaminyltransferase 1
OMIM: 601873
PanelMode of inheritanceDetails
4 panels
R-numbers: R60
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 26, autosomal recessive, 609195
R-numbers: R61
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 26, autosomal recessive, 609195
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 26, autosomal recessive, OMIM:609195, Hereditary spastic paraplegia 26, MONDO:0012213
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 26, autosomal recessive OMIM:609195, hereditary spastic paraplegia 26 MONDO:0012213