Genomics England

CTSA

cathepsin A

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Galactosialidosis, 256540
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 5.4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Cathepsin A-related arteriopathy-strokes-leukoencephalopathy, MONDO:0035551
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes GALACTOSIALIDOSIS 256540
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes GALACTOSIALIDOSIS
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 Galactosialidosis, 256540, GALACTOSIALIDOSIS (GSL)
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 Galactosialidosis
Green in Lysosomal storage disorder R-numbers: R276 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Galactosialidosis OMIM:256540, galactosialidosis MONDO:0009737
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Galactosialidosis 256540