B4GALNT1

beta-1,4-N-acetyl-galactosaminyltransferase 1
OMIM: 601873
PanelMode of inheritanceDetails
6 panels
R-numbers: R60
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 26, autosomal recessive, 609195
R-numbers: R61
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 26, autosomal recessive, 609195
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 6.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 26, autosomal recessive, OMIM:609195, Hereditary spastic paraplegia 26, MONDO:0012213
R-numbers: R78
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy, Spastic paraplegia 26, autosomal recessive, 609195, SPG26
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 26, autosomal recessive OMIM:609195, hereditary spastic paraplegia 26 MONDO:0012213
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 26, autosomal recessive, OMIM:609195, Hereditary spastic paraplegia 26, MONDO:0012213