Genomics England
GMS Panels
Panels
Genes and Entities

B4GALNT1

beta-1,4-N-acetyl-galactosaminyltransferase 1
OMIM: 601873
PanelMode of inheritanceDetails
5 panels
Green
in Adult onset hereditary spastic paraplegia
R-numbers: R60
Signed-off version 3.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 26, autosomal recessive, 609195
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 26, autosomal recessive, 609195
Green
in Congenital disorders of glycosylation
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 26, autosomal recessive, OMIM:609195, Hereditary spastic paraplegia 26, MONDO:0012213
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 26, autosomal recessive OMIM:609195, hereditary spastic paraplegia 26 MONDO:0012213
Green
in Likely inborn error of metabolism - targeted testing not possible
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 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 26, autosomal recessive, OMIM:609195, Hereditary spastic paraplegia 26, MONDO:0012213