Genomics England
GMS Panels
Panels
Genes and Entities

CTSF

cathepsin F
OMIM: 603539
PanelMode of inheritanceDetails
4 panels
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362
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
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 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362, neuronal ceroid lipofuscinosis 13 MONDO:0014147
Green
in Neuronal ceroid lipofuscinosis
R-numbers: R231
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362, neuronal ceroid lipofuscinosis 13 MONDO:0014147