Genomics England

FUCA1

alpha-L-fucosidase 1

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FUCOSIDOSIS 230000
Green in Dystonia, chorea or related movement disorder, childhood onset R-numbers: R57 Signed-off version 8.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fucosidosis OMIM:230000, fucosidosis MONDO:0009254
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 Signed-off version 9.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fucosidosis, 230000, seizures
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fucosidosis, 230000, FUCOSIDOSIS (FUCA1D), intellectual disability
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fucosidosis, 230000
Green in Lysosomal storage disorder R-numbers: R276 Signed-off version 3.10	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fucosidosis OMIM:230000, fucosidosis MONDO:0009254
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 10.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fucosidosis 230000
Green in White matter disorders and cerebral calcification - childhood onset Component of the following Super Panels: - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 8.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fucosidosis, General Leukodystrophy & Mitochondrial Leukoencephalopathy