Genomics England

FUK

fucokinase

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Congenital disorders of glycosylation Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 6.11	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation with defective fucosylation 2 OMIM:618324, congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.48	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 7.54	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation with defective fucosylation 2 OMIM:618324, congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.134	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation with defective fucosylation 2, OMIM:618324
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 7.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital disorder of glycosylation with defective fucosylation 2 OMIM:618324, congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777