Genomics England

B4GALNT1

beta-1,4-N-acetyl-galactosaminyltransferase 1

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 4.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 26, autosomal recessive, 609195
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 5.3	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 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 26, autosomal recessive, OMIM:609195, Hereditary spastic paraplegia 26, MONDO:0012213
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	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 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 5.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 26, autosomal recessive, OMIM:609195, Hereditary spastic paraplegia 26, MONDO:0012213