Genomics England

CTSF

cathepsin F

Panel	Mode of inheritance	Details
Filter panels5 panels
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 Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362, neuronal ceroid lipofuscinosis 13, MONDO:0014147
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 Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362, neuronal ceroid lipofuscinosis 13 MONDO:0014147
Green in Lysosomal storage disorder R-numbers: R276 Signed-off version 3.10	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362, neuronal ceroid lipofuscinosis 13 MONDO:0014147
Green in Neurodegenerative disorders, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362
Green in Neuronal ceroid lipofuscinosis R-numbers: R231 Signed-off version 3.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362, neuronal ceroid lipofuscinosis 13 MONDO:0014147