Gene Symbol CTSF
Gene ID 8722
Chromosomal Location 11q13
Genomic RefSeqGene NG_032973.1 12113 bp
Transcript RefSeq NM_003793.3 2032 bp
Protein RefSeq NP_003784.2 484 aa
No. patients 7
No. families 4
DB Patient ID Other Patient ID Allele 1 Allele 2 Nucleotide changes in same gene Nucleotide changes in other genes Phenotype Age at onset Histology Country of origin Country of residence Reference PMID Notes
Pa-ctsf.001 Ku4_II-3_Smith_2013 p.Gly458Ala p.Ser480Leu     Kufs B 20 y   Italy   Smith et al., Hum Mol Genet. 2013 23297359 Siblings
Pa-ctsf.002 Ku4_II-2_Smith_2013 p.Gly458Ala p.Ser480Leu     Kufs B 32 y   Italy   Smith et al., Hum Mol Genet. 2013 23297359  
Pa-ctsf.003 Ku10_II-1_Smith_2013 p.Gln321Arg p.Gln321Arg Kufs B 24 y Canada (French) Smith et al., Hum Mol Genet. 2013 23297359
Pa-ctsf.004 Ku16_II-2_Smiith_2013 p.Tyr231Cys p.Ser319LeufsX27 Kufs B Australia Smith et al., Hum Mol Genet. 2013 23297359
Pa-ctsf.005 IV-3_Fabio_2014 c.213+1G>C c.213+1G>C     Kufs B 23y GROD Italy Italy Fabio et al. Neurology 2014 25274848 Extended family
Pa-ctsf.006 III-5_Fabio_2014 c.213+1G>C c.213+1G>C Kufs B GROD Italy Italy Fabio et al. Neurology 2014 25274848 apparently dominant but actually recessive
Pa-ctsf.007 V-1_Fabio_2014 c.213+1G>C c.213+1G>C     Kufs B   n.d. Italy Italy Fabio et al. Neurology 2014 25274848  
 
 
Notes
C around birth,  infantile (6-18 mo)I, LI late infantile (2-4 yr), vLI (varaint late infantile), J Juvenile (5-10 yr), A Adult 
GROD - Granular Osmiophilic Deposits, CL - Curvilinear, RL- Rectilinear, FP - Fingerprint, condensed