Genomics England

GALC

galactosylceramidase

Panel	Mode of inheritance	Details
Filter panels12 panels
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Krabbe disease, OMIM:245200
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Krabbe disease, OMIM:245200
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Krabbe disease OMIM:245200
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes KRABBE DISEASE 245200
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 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Krabbe disease, OMIM:245200
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Krabbe disease, OMIM:245200
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Krabbe disease, OMIM:245200
Green in Intellectual disability 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 Krabbe disease, OMIM:245200
Green in Krabbe disease - GALC deficiency R-numbers: R280 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes
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 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Krabbe disease, OMIM:245200
Green in Lysosomal storage disorder R-numbers: R276 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Krabbe disease OMIM:245200, Krabbe disease MONDO:0009499
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Krabbe disease, OMIM:245200