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 103
No. families 84
Additional notes 12 patients diagnosed with different genetic types of NCL have variation in CLN5 (bright yellow)
                           
DB Patient ID Other Patient ID Allele 1 Allele 2 Nucleotide changes in same gene Nucleotide changes in other genes NCL Phenotype or other disease Age at onset () Histology Country of origin Country of Residence Other ethnicity information Reference PMID Notes  
Pa-cln5.038 1_Xin_2010 p.Trp224* p.Lys368SerfsX15     juvenile 5 n.a. USA     Xin et al., 2010 20157158  
Pa-cln5.039 2_Xin_2010 p.Trp224* p.Thr303CysfsX10     juvenile 5 FP, CL USA     Xin et al., 2010 20157158  
Pa-cln5.040 3_Xin_2010 or CAMB-BR19_Sleat_2009 p.Cys126Tyr p.Tyr374Cys     adult 17 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   juvenile n.a. n.a.   USA Hispanic 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     adult 17 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)   juvenile 3 FP, CL (skin) Sweden     Xin et al., 2010 20157158 Holmberg et al., 2000
Pa-cln5.044 7_Xin_2010 p.Trp207Ser p.Leu358AlafsX4     juvenile 4 n.a. China USA   Xin et al., 2010 20157158  
Pa-cln5.045 8_Xin_2010 p.Asn192Ser p.Asn192Ser     juvenile 5 n.a. Asia USA   Xin et al., 2010 20157158  
Pa-cln5.046 9_Xin_2010 p.Arg307GlufsX29 p.Arg307GlufsX29     juvenile 6 vacuoles (muscle) Egypt USA   Xin et al., 2010 20157158  
Pa-cln5.047 10_Xin_2010 p.Gly177TrpfsX10 p.Gly177TrpfsX10     juvenile 5 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*     late infantile 3 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*     late infantile 3 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*     late infantile 4 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*     late infantile 3 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*     late infantile 4 FP, CL Finland     Savukoski et al., 1998 9662406 Holmberg et al., 2000
Pa-cln5.006 6_Savukoski_1998  p.Tyr392* p.Tyr392*     late infantile n.a. n.a. Finland     Savukoski et al., 1998 9662406  
Pa-cln5.007 7_Savukoski_1998 p.Tyr392* p.Tyr392*     late infantile n.a. n.a. Finland     Savukoski et al., 1998 9662406  
Pa-cln5.008 8_Savukoski_1998 p.Tyr392* p.Tyr392*     late infantile n.a. n.a. Finland     Savukoski et al., 1998 9662406  
Pa-cln5.009 9_Savukoski_1998 p.Tyr392* p.Tyr392*     late infantile n.a. n.a. Finland     Savukoski et al., 1998 9662406  
Pa-cln5.010 10_Savukoski_1998 p.Tyr392* p.Tyr392*     late infantile n.a. n.a. Finland     Savukoski et al., 1998 9662406  
Pa-cln5.011 11_Savukoski_1998 p.Tyr392* p.Tyr392*     late infantile n.a. n.a. Finland     Savukoski et al., 1998 9662406  
Pa-cln5.012 12_Savukoski_1998 p.Tyr392* p.Tyr392*     late infantile n.a. n.a. Finland     Savukoski et al., 1998 9662406  
Pa-cln5.013 13_Savukoski_1998 p.Tyr392* p.Tyr392*     late infantile n.a. n.a. Finland     Savukoski et al., 1998 9662406  
Pa-cln5.014 14_Savukoski_1998 p.Tyr392* p.Tyr392*     late infantile n.a. n.a. Finland     Savukoski et al., 1998 9662406  
Pa-cln5.015 15_Savukoski_1998 p.Tyr392* p.Tyr392*     late infantile n.a. n.a. Finland     Savukoski et al., 1998 9662406  
Pa-cln5.016 16_Savukoski_1998 p.Tyr392* p.Tyr392*     late infantile n.a. n.a. Finland     Savukoski et al., 1998 9662406  
Pa-cln5.017 17_Savukoski_1998 p.Tyr392* p.Tyr392*     late infantile n.a. n.a. Finland     Savukoski et al., 1998 9662406  
Pa-cln5.018 18_Savukoski_1998 p.Tyr392* p.Tyr392*     late infantile n.a. n.a. Finland     Savukoski et al., 1998 9662406  
Pa-cln5.019 19_Savukoski_1998 p.Trp75* p.Trp75* p.Lys368Arg   late infantile n.a. n.a. Finland     Savukoski et al., 1998 9662406  
Pa-cln5.020 20_Savukoski_1998 or 6_Holmberg_2000 p.Asp279Asn p.Asp279Asn     late infantile 2 FP, CL The Netherlands     Savukoski et al., 1998 9662406 Holmberg et al., 2000
Pa-cln5.021 7_Holmberg_2000 p.Tyr392* p.Trp224LeufsX30     late infantile 4 FP, CL Finland     Holmberg et al., 2000 10953198 this patient is also described in Simonati et al. 2017
Pa-cln5.029 59AP_Kohan_2008 p.Lys368SerfsX15 p.Lys368SerfsX15     late infantile 7 CL and vacuoles Spain     Kohan et al., 2008 20960652  
Pa-cln5.030 27DM_Cismondi_2008 p.Ser98LeufsX13 p.Ser98LeufsX13     late infantile 4mo GROD (skin);                  FP (sytosomes) Argentina     Cismondi et al., 2008 20960661  
Pa-cln5.022 NCL-22_Pineda-Trujillo_2005 p.Arg112His p.Arg112His     juvenile 9 FP (skin) Colombia     Pineda-Trujillo et al., 2005 15728307 sibs                  
Pa-cln5.023 NCL-13_Pineda-Trujillo_2005 p.Arg112His p.Arg112His     juvenile 9 n.a. Colombia     Pineda-Trujillo et al., 2005 15728307  
Pa-cln5.024 1_Bessa_2006 p.Asp279Asn p.Gln189* p.Arg112Pro   late infantile 3 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     juvenile 5 FP,CL, GROD Italy     Cannelli et al., 2007 17607606 sibs; seizures late                
Pa-cln5.026 2_Cannelli_2007 p.Tyr258Asp p.Tyr258Asp     juvenile 7 FP,CL, GROD Italy     Cannelli et al., 2007 17607606  
Pa-cln5.031 370Pa_Kousi_2009 p.Tyr342* p.Tyr342*     late infantile 5.5 FP/RL Czech Republic   Roma Kousi et al., 2009 19201763  
Pa-cln5.027 CLN5_1_Moore_2008 p.Glu352* p.Glu352*     NCL 5 CL, FP  UK Newfoundland   Moore et al., 2008 18684116 sibs                
Pa-cln5.028 CLN5_2_Moore_2008 p.Glu352* p.Glu352*     NCL 6.6 RL, FP UK Newfoundland   Moore et al., 2008 18684116  
Pa-cln5.032 1_Lebrun_2009 p.Leu358AlafsX4 p.Leu358AlafsX4     juvenile 5 FP (skin) Pakistan UK   Lebrun et al., 2009 19309691 sibs                
Pa-cln5.033 2_Lebrun_2009 p.Leu358AlafsX4 p.Leu358AlafsX4     juvenile 4 FP (skin) Pakistan UK   Lebrun et al., 2009 19309691  
Pa-cln5.034 3_Lebrun_2009 p.Trp379Cys p.Trp379Cys     late infantile 2 n.a. Afghanistan     Lebrun et al., 2009 19309691 sibs
Pa-cln5.035 4_Lebrun_2009 p.Trp379Cys p.Trp379Cys     late infantile 3 n.a. Afghanistan     Lebrun et al., 2009 19309691  
Pa-cln5.036 1_Al-Kowari_2011 p.Pro205Ser p.Pro205Ser     late infantile 3 FP Qatar     Al-Kowari et al., 2011 21447811 sibs
Pa-cln5.037 2_Al-Kowari_2011 p.Pro205Ser p.Pro205Ser     late infantile 3.5 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) late infantile 4 n.a. Turkey     Kousi et al., 2012 21990111 Patient has mutations in CLN7 and CLN5
Pa-cln7.059 N5003_Kousi_2011_novel p.Arg2Cys     CLN7: c.754+2T>A, p.Thr294Lys late infantile 3 n.a. Turkey     Kousi et al., 2012 21990111 Patient has mutations in CLN7 and CLN5
Pa-cln5.056 N5503_Kousi_2011_novel p.Arg2Cys       late infantile 1 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) late infantile 3.5 No vacuoles Turkey     Kousi et al., 2012 21990111 Patient has mutations in CLN7 and CLN5
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. 3 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       infantile 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 Patient has mutations in CLN7 and CLN5
Pa-cln5.063 N6003_Kousi_2011_novel c.320+8C>T c.320+8C>T p.Lys368Arg   late infantile 1 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 late infantile 4.5 GROD / FP / CL Cook Islands     Kousi et al., 2012 21990111 Patient has mutations in CLN7 and CLN5
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 Patient has mutations in CLN7 and CLN5
Pa-cln5.068 N12303_Kousi_2011_novel p.Asn242Lys p.Asn242Lys     n.a. 2 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 Patient has mutations in CLN7 and CLN5
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       late infantile 4 n.a. Turkey     Kousi et al., 2012 21990111 Not in CLN6, 7, 8, tables
Pa-cln5.071 N4903_Kousi_2011_novel p.Lys368Arg       congenital at 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) late infantile 2.5 n.a. Turkey     Kousi et al., 2012 21990111 Patient has mutations in CLN7 and CLN5
Pa-cln7.004 j3_Kousi_2011_novel p.Lys368Arg     CLN7: p.Tyr298X (homo) late infantile 3 n.a. India     Kousi et al., 2012 21990111 Patient has mutations in CLN7 and CLN5
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   GROD, CL, FP (lymphocytes and skin) North Europe 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*     juvenile       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 ? ?       4 FP Pakistan UK   Setty et al. J. Pediatr Neurosci. 2013 24082928 siblings. Cln5 mutation described as being present, but no further details
Pa-cln5.087 2_Setty_2013 ? ?       4 FP Pakistan UK   Setty et al. J. Pediatr Neurosci. 2013 24082928  
Pa-cln5.088 III_5_ATA-7-TO p.Ser312Asn p.Ser312Asn     adult 56 n.d. Italy     Mancini et al, J Neurol 2015 25359263 siblings
Pa-cln5.089 III_6_ATA-7-TO p.Ser312Asn p.Ser312Asn     adult 50 n.d. Italy     Mancini et al, J Neurol 2015 25359263 Cerebellar ataxisa, both with visual failure
Pa-cln7.090 1_Craiu_2015 p.Asp17Ala     CLN7: p.Thr294Lys + c.754+2T>A Rett syndrome, progressing to vLINCL 1.5 CL, FP India Romania   Craiu et al, EurJ  Paed Neurol 2015  25439737 Patient has mutations in CLN7 and CLN5
Pa-cln5.090   p.(Trp247Cysfs*5) p.(Trp247Cysfs*5)     late infantile 5   Middle East     R Williams pers comm
Pa-cln5.091   p.(Asn242Lys) p.(Pro21Ser)     equivocal       Brazil   L Jardim pers comm   Family with 2 sibs with adult-onset spinocerebellar ataxia. Atypical phenotype. exon4:Asp242Lys is frequent  variant 
Notes
Congenital around birth,  infantile (0.5-1.5y), late infantile (2-4 yr),  juvenile (5-10 yr), adult 
GROD - Granular Osmiophilic Deposits, CL - Curvilinear, RL- Rectilinear, FP - Fingerprint, condensed
Last updated 28-Nov-17
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