Gene Symbol CLN5
Gene ID 1203
Chromosomal Location 13q21.1-32
Genomic RefSeqGene NG_009064.1 17594 bp
Transcript RefSeq NM_006493 2816 bp
Protein RefSeq 5729772 407 aa
No patients 85
No. families 79
Additional notes
DB Patient ID Other Patient ID Allele 1 Allele 2 Changes in same gene Changes in other genes Phenotype Age at onset Histology Country of origin Country of Residence Reference PMID Notes
Pa-cln5.038 1_Xin_2010 p.Trp224* p.Lys368SerfsX15 JNCL 5y n.a. USA Xin et al., 2010 20157158
Pa-cln5.039 2_Xin_2010 p.Trp224* p.Thr303CysfsX10 JNCL 5y FP, CL USA Xin et al., 2010 20157158
Pa-cln5.040 3_Xin_2010 or CAMB-BR19_Sleat_2009 p.Cys126Tyr p.Tyr374Cys ANCL 17y GROD, FP, CL (neurons, glia); CL, RL (muscle); CL, FP (skin); CL (spleen) USA Xin et al., 2010 20157158
Pa-cln5.041 4_Xin_2010 p.Phe361LeufsX4 p.Phe361LeufsX4 c.72a>G (p.Gly24Gly) c.320+18C>T; c.1103A>G (p.Lys368Arg); c.1224+33A>G JNCL n.a. n.a. Hispanic USA Xin et al., 2010 20157158 Two other nucleotide changes recoded in CLN5: p.Lys368Arg (homo), c.1224+33A>G (homo)
Pa-cln5.042 5_Xin_2010 p.Tyr374Cys p.Thr303CysfsX10 ANCL 17y GROD (blood); FP (brain) USA Xin et al., 2010 20157158
Pa-cln5.043 6_Xin_2010 or 8_Holmberg_2000 p.Trp75* p.Trp224LeufsX30 c.528T>G (p.Thr176Thr) JNCL 3y FP, CL (skin) Sweden Xin et al., 2010 20157158 Holmberg et al., 2000
Pa-cln5.044 7_Xin_2010 p.Trp207Ser p.Leu358AlafsX4 JNCL 4y n.a. China USA Xin et al., 2010 20157158
Pa-cln5.045 8_Xin_2010 p.Asn192Ser p.Asn192Ser JNCL 5y n.a. Asia USA Xin et al., 2010 20157158
Pa-cln5.046 9_Xin_2010 p.Arg307GlufsX29 p.Arg307GlufsX29 JNCL 6y vacuoles (muscle) Egypt USA Xin et al., 2010 20157158
Pa-cln5.047 10_Xin_2010 p.Gly177TrpfsX10 p.Gly177TrpfsX10 JNCL 5y FP, CL Pakistan USA Xin et al., 2010 20157158 in original pub as p.Thr176AsnfsX11
Pa-cln5.001 1_Savukoski_1998 or 1_Holmberg_2000 p.Tyr392* p.Tyr392* LINCL 3y FP, CL Finland Savukoski et al., 1998 9662406 Holmberg et al., 2000
Pa-cln5.002 2_Savukoski_1998 or 2_Holmberg_2000 p.Tyr392* p.Tyr392* LINCL 3y FP, CL Finland Savukoski et al., 1998 9662406 Holmberg et al., 2000
Pa-cln5.003 3_Savukoski_1998 or 3_Holmberg_2000 p.Tyr392* p.Tyr392* LINCL 4y FP, CL Finland Savukoski et al., 1998 9662406 Holmberg et al., 2000
Pa-cln5.004 4_Savukoski_1998 or 4_Holmberg_2000 p.Tyr392* p.Tyr392* LINCL 3y FP, CL Finland Savukoski et al., 1998 9662406 Holmberg et al., 2000
Pa-cln5.005 5_Savukoski_1998 or 5_Holmberg_2000 p.Tyr392* p.Tyr392* LINCL 4y FP, CL Finland Savukoski et al., 1998 9662406 Holmberg et al., 2000
Pa-cln5.006 6_Savukoski_1998  p.Tyr392* p.Tyr392* LINCL n.a. n.a. Finland Savukoski et al., 1998 9662406
Pa-cln5.007 7_Savukoski_1998 p.Tyr392* p.Tyr392* LINCL n.a. n.a. Finland Savukoski et al., 1998 9662406
Pa-cln5.008 8_Savukoski_1998 p.Tyr392* p.Tyr392* LINCL n.a. n.a. Finland Savukoski et al., 1998 9662406
Pa-cln5.009 9_Savukoski_1998 p.Tyr392* p.Tyr392* LINCL n.a. n.a. Finland Savukoski et al., 1998 9662406
Pa-cln5.010 10_Savukoski_1998 p.Tyr392* p.Tyr392* LINCL n.a. n.a. Finland Savukoski et al., 1998 9662406
Pa-cln5.011 11_Savukoski_1998 p.Tyr392* p.Tyr392* LINCL n.a. n.a. Finland Savukoski et al., 1998 9662406
Pa-cln5.012 12_Savukoski_1998 p.Tyr392* p.Tyr392* LINCL n.a. n.a. Finland Savukoski et al., 1998 9662406
Pa-cln5.013 13_Savukoski_1998 p.Tyr392* p.Tyr392* LINCL n.a. n.a. Finland Savukoski et al., 1998 9662406
Pa-cln5.014 14_Savukoski_1998 p.Tyr392* p.Tyr392* LINCL n.a. n.a. Finland Savukoski et al., 1998 9662406
Pa-cln5.015 15_Savukoski_1998 p.Tyr392* p.Tyr392* LINCL n.a. n.a. Finland Savukoski et al., 1998 9662406
Pa-cln5.016 16_Savukoski_1998 p.Tyr392* p.Tyr392* LINCL n.a. n.a. Finland Savukoski et al., 1998 9662406
Pa-cln5.017 17_Savukoski_1998 p.Tyr392* p.Tyr392* LINCL n.a. n.a. Finland Savukoski et al., 1998 9662406
Pa-cln5.018 18_Savukoski_1998 p.Tyr392* p.Tyr392* LINCL n.a. n.a. Finland Savukoski et al., 1998 9662406
Pa-cln5.019 19_Savukoski_1998 p.Trp75* p.Trp75* p.Lys368Arg LINCL n.a. n.a. Finland Savukoski et al., 1998 9662406
Pa-cln5.020 20_Savukoski_1998 or 6_Holmberg_2000 p.Asp279Asn p.Asp279Asn LINCL 2y FP, CL The Netherlands Savukoski et al., 1998 9662406 Holmberg et al., 2000
Pa-cln5.021 7_Holmberg_2000 p.Tyr392* p.Trp224LeufsX30 LINCL 4y FP, CL Finland Holmberg et al., 2000 10953198
Pa-cln5.029 59AP_Kohan_2008 p.Lys368SerfsX15 p.Lys368SerfsX15 LINCL 7y CL and vacuoles Spain Kohan et al., 2008 20960652
Pa-cln5.030 27DM_Cismondi_2008 p.Ser98LeufsX13 p.Ser98LeufsX13 LINCL 4mo GROD (skin);                  FP (sytosomes) Argentina Cismondi et al., 2008 20960661
Pa-cln5.022 NCL-22_Pineda-Trujillo_2005 p.Arg112His p.Arg112His     JNCL 9y FP (skin) Colombia   Pineda-Trujillo et al., 2005 15728307 sibs                  
Pa-cln5.023 NCL-13_Pineda-Trujillo_2005 p.Arg112His p.Arg112His     JNCL 9y n.a. Colombia   Pineda-Trujillo et al., 2005 15728307  
Pa-cln5.024 1_Bessa_2006 p.Asp279Asn p.Gln189* p.Arg112Pro vLINCL 3y CL, FP (skin) Portugal Bessa et al., 2006 16814585 p.Asp279Asn and pArg112Pro both on maternal allele
Pa-cln5.025 1_Cannelli_2007 p.Tyr258Asp p.Tyr258Asp     vJNCL 5 y FP,CL, GROD Italy   Cannelli et al., 2007 17607606 sibs; seizures late             
Pa-cln5.026 2_Cannelli_2007 p.Tyr258Asp p.Tyr258Asp     vJNCL 7 y FP,CL, GROD Italy   Cannelli et al., 2007 17607606  
Pa-cln5.031 370Pa_Kousi_2009 p.Tyr342* p.Tyr342* LINCL 5.5y FP/RL Roma from the former Czechoslovakia Kousi et al., 2009 19201763
Pa-cln5.027 CLN5_1_Moore_2008 p.Glu352* p.Glu352*     NCL 5y CL, FP  UK Newfoundland Moore et al., 2008 18684116 sibs                
Pa-cln5.028 CLN5_2_Moore_2008 p.Glu352* p.Glu352*     NCL 6.6y RL, FP UK Newfoundland Moore et al., 2008 18684116  
Pa-cln5.032 1_Lebrun_2009 p.Leu358AlafsX4 p.Leu358AlafsX4     JNCL 5y FP (skin) Pakistan UK Lebrun et al., 2009 19309691 sibs                
Pa-cln5.033 2_Lebrun_2009 p.Leu358AlafsX4 p.Leu358AlafsX4 JNCL 4y FP (skin) Pakistan UK Lebrun et al., 2009 19309691  
Pa-cln5.034 3_Lebrun_2009 p.Trp379Cys p.Trp379Cys     LINCL 2y n.a. Afghanistan   Lebrun et al., 2009 19309691 sibs
Pa-cln5.035 4_Lebrun_2009 p.Trp379Cys p.Trp379Cys LINCL 3y n.a. Afghanistan Lebrun et al., 2009 19309691  
Pa-cln5.036 1_Al-Kowari_2011 p.Pro205Ser p.Pro205Ser     LINCL 3y FP Qatar   Al-Kowari et al., 2011 21447811 sibs
Pa-cln5.037 2_Al-Kowari_2011 p.Pro205Ser p.Pro205Ser     LINCL 3.5y FP Qatar   Al-Kowari et al., 2011 21447811  
Pa-cln5.048 55897_Kousi_2011_novel p.Trp224* p.Gly319PhefsX12 n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln5.049 47162_Kousi_2011_novel p.Arg2Cys p.Asn242Lys n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln5.050 52099_Kousi_2011_novel p.Leu358AlafsX4 p.Leu358AlafsX4 n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln5.051 41984_Kousi_2011_novel p.Arg112His p.Trp207Arg n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln5.052 73945_Kousi_2011_novel p.Arg145* p.Arg145* n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln5.053 N1303_Kousi_2011_novel p.Arg2Cys n.a. n.a. n.a. Turkey Kousi et al., 2012 21990111 Not in CLN6, 7, 8, tables
Pa-cln6.064 N1403_Kousi_2011_novel p.Arg2Cys p.Arg2Cys CLN6: p.Pro159Leu (homo) n.a. n.a. n.a. Turkey Kousi et al., 2012 21990111 In CLN6 table
Pa-cln5.054 N2503_Kousi_2011_novel p.Arg2Cys p.Arg2Cys n.a. n.a. n.a. Turkey Kousi et al., 2012 21990111 Not in CLN6, 7, 8, tables
Pa-cln5.055 N2903_Kousi_2011_novel p.Arg2Cys n.a. n.a. n.a. Turkey Kousi et al., 2012 21990111 Not in CLN6, 7, 8, tables
Pa-cln7.009 N3703_Kousi_2011_novel p.Arg2Cys CLN7: pThr294Lys (homo) LINCL 4y n.a. Turkey Kousi et al., 2012 21990111 In CLN7 table
Pa-cln7.059 N5003_Kousi_2011_novel p.Arg2Cys CLN7: c.754+2T>A, p.Thr294Lys LINCL 3y n.a. Turkey Kousi et al., 2012 21990111 In CLN7 table
Pa-cln5.056 N5503_Kousi_2011_novel p.Arg2Cys LINCL 1y n.a. Turkey Kousi et al., 2012 21990111 Not in CLN6, 7, 8, tables
Pa-cln7.006 h3_Kousi_2011_novel p.Arg2Cys p.Trp75Arg CLN7: p.Asp368Hs / splice defect (homo) vLINCL 3.5y No vacuoles Turkey Kousi et al., 2012 21990111 In CLN7 table
Pa-cln5.057 n3_Kousi_2011_novel p.Arg2Cys n.a. n.a. n.a. Turkey Kousi et al., 2012 21990111 Not in CLN6, 7, 8, tables
Pa-cln5.058 v3_Kousi_2011_novel p.Arg2Cys p.Asn242Lys n.a. 3y n.a. Turkey Kousi et al., 2012 21990111 Not in CLN6, 7, 8, tables
Pa-cln6.105 N7603_Kousi_2011_novel p.Arg2Cys CLN6: p.Ser265del n.a. n.a. n.a. Turkey Kousi et al., 2012 21990111 In CLN6 table
Pa-cln5.059 N7803_Kousi_2011_novel p.Arg2Cys p.Arg2Cys n.a. n.a. n.a. Turkey Kousi et al., 2012 21990111 Not in CLN6, 7, 8, tables
Pa-cln5.060 N8603_Kousi_2011_novel p.Arg2Cys p.Arg2Cys n.a. n.a. n.a. Turkey Kousi et al., 2012 21990111 Not in CLN6, 7, 8, tables
Pa-cln5.061 N2103_Kousi_2011_novel p.Pro21Ser n.a. n.a. n.a. Turkey Kousi et al., 2012 21990111 Not in CLN6, 7, 8, tables
Pa-cln5.062 N6103_Kousi_2011_novel p.Trp75Arg INCL n.a. n.a. Turkey Kousi et al., 2012 21990111 Not in CLN6, 7, 8, tables
Pa-cln7.056 N8803_Kousi_2011_novel p.Trp75Arg CLN7: p.Thr160Asn (homo) n.a. n.a. n.a. Turkey Kousi et al., 2012 21990111 In CLN7 table
Pa-cln5.063 N6003_Kousi_2011_novel c.320+8C>T c.320+8C>T p.Lys368Arg LINCL 1y n.a. Turkey Kousi et al., 2012 21990111 Not in CLN6, 7, 8, tables
Pa-cln7.055 N6603_Kousi_2011_novel c.320+8C>T CLN7: p.Arg35X, p.Thr160Ile vLINCL 4.5y GROD / FP / CL Cook Islands Kousi et al., 2012 21990111 In CLN6 table
Pa-cln5.064 N8403_Kousi_2011_novel c.320+8C>T n.a. n.a. n.a. Turkey Kousi et al., 2012 21990111 Not in CLN6, 7, 8, tables
Pa-cln5.065 N8703_Kousi_2011_novel c.320+8C>T n.a. n.a. n.a. Turkey Kousi et al., 2012 21990111 Not in CLN6, 7, 8, tables
Pa-cln5.066 N9303_Kousi_2011_novel c.320+8C>T n.a. n.a. n.a. Turkey Kousi et al., 2012 21990111 Not in CLN6, 7, 8, tables
Pa-cln5.067 N7903_Kousi_2011_novel p.Leu175X p.Leu175X n.a. n.a. n.a. Turkey Kousi et al., 2012 21990111 Not in CLN6, 7, 8, tables
Pa-cln7.068 N12503_Kousi_2011_novel p.Leu198Pro not identified CLN7: p.Met470Val n.a. n.a. n.a. Turkey Kousi et al., 2012 21990111 In CLN7 table.  Which mutations are causing the disease?
Pa-cln5.068 N12303_Kousi_2011_novel p.Asn242Lys p.Asn242Lys n.a. 2y n.a. Turkey Kousi et al., 2012 21990111 Not in CLN6, 7, 8, tables; may be SNP
Pa-cln7.066 N1603_Kousi_2011_novel p.Lys368Arg CLN7: p.Gly310Asp (homo) n.a. n.a. n.a. Turkey Kousi et al., 2012 21990111 In CLN7 table
Pa-cln5.069 N2303 _Kousi_2011_novel p.Lys368Arg n.a. n.a. n.a. Turkey Kousi et al., 2012 21990111 Not in CLN6, 7, 8, tables
Pa-cln5.070 N3303_Kousi_2011_novel p.Lys368Arg LINCL 4y n.a. Turkey Kousi et al., 2012 21990111 Not in CLN6, 7, 8, tables
Pa-cln5.071 N4903_Kousi_2011_novel p.Lys368Arg Congenital NCL 18th hour after birth n.a. Turkey Kousi et al., 2012 21990111 Not in CLN6, 7, 8, tables
Pa-cln5.072 N9503_Kousi_2011_novel p.Lys368Arg n.a. n.a. n.a. Finland Kousi et al., 2012 21990111 Not in CLN6, 7, 8, tables
Pa-cln7.003 e5_Kousi_2011_novel p.Lys368Arg CLN7: c.754+2T>A (homo) vLINCL 2.5y n.a. Turkey Kousi et al., 2012 21990111 In CLN7 table?
Pa-cln7.004 j3_Kousi_2011_novel p.Lys368Arg CLN7: p.Tyr298X (homo) vLINCL 3y n.a. India Kousi et al., 2012 21990111 In CLN7 table?
Pa-cln5.073 RAY30_Kousi_2011_novel p.Trp224LeufsX30 p.Trp75* n.a. n.a. n.a. Canada Kousi et al., 2012 21990111
Pa-cln5.074 RAY39_Kousi_2011_novel p.Pro205Ser not identified n.a. n.a. n.a. Canada Kousi et al., 2012 21990111
Pa-cln5.075 RAY40_Kousi_2011_novel p.Pro205Ser not identified n.a. n.a. n.a. Canada Kousi et al., 2012 21990111
Pa-cln5.076 RAY43_Kousi_2011_novel p.Arg2Cys c.486+5G>C n.a. n.a. n.a. Canada Kousi et al., 2012 21990111
Pa-cln5.077 RAY47_Kousi_2011_novel p.Lys368Arg c.320+8C>T n.a. n.a. n.a. Canada Kousi et al., 2012 21990111
Pa-cln5.078 RAY48_Kousi_2011_novel p.Lys368Arg p.Lys368Arg n.a. n.a. n.a. Canada Kousi et al., 2012 21990111
Pa-cln5.079 RAY50_Kousi_2011_novel p.Lys368Arg c.320+8C>T n.a. n.a. n.a. Canada Kousi et al., 2012 21990111
Pa-cln5.080 RAY52_Kousi_2011_novel p.Lys368Arg c.320+8C>T n.a. n.a. n.a. Canada Kousi et al., 2012 21990111
Pa-cln5.081 RAY53_Kousi_2011_novel p.Arg2Cys not identified n.a. n.a. n.a. Canada Kousi et al., 2012 21990111
Pa-cln5.082 RAY52_Kousi_2011_novel p.Lys368Arg p.Lys368Arg c.320+8C>T n.a. n.a. n.a. Canada Kousi et al., 2012 21990111
Pa-cln5.083 DAT49_Kousi_2011_novel p.Arg307GlufsX29 n.a. n.a. n.a. n.a. Egypt Kousi et al., 2012 (Amr and Abdel-Hamid personal communication to NCL database) 21990111
Pa-cln5.084 Staropoli_2012 p.Pro21Ser p.Lys163GlufsX11 POLG1: c.1550G>T, p.Gly517Val (het) Congenital NCL GROD, CL, FP (lymphocytes and skin) Northern European USA Starooli et al 2012 BMC Med Genet. 13:50 22727047 Very early onset for CLN5 disease.  May be modified by change in POLG1, POLG1 disease is very variable and mutation in het as here can cause disease of onset from 1-16 yr
Pa-cln5.085 Boustany p.Gln232* p.Gln232* JNCL Serbia Haddad et al., 2012 23160995 Originally described as  a'CLN9' variant but mutation not present in other similar families
Pa-cln5.086 1_Setty_2013 ? ?       4y FP Pakistan UK Setty et al. J. Pediatr Neurosci. 2013 24082928 siblings
Pa-cln5.087 2_Setty_2013 ? ?       4y FP Pakistan UK Setty et al. J. Pediatr Neurosci. 2013 24082928  
Notes
C - around birth, I -  infantile (6-18 mo), LI - late infantile (2-4 yr), vLI - variant late infantile, J - juvenile (5-10 yr), A - adult 
GROD - Granular osmiophilic deposits, CL - Curvilinear, RL- Rectilinear, FP - Fingerprint, condensed