Gene Symbol CLN6
Gene ID 54982
Chromosomal Location 15q23
Genomic RefSeqGene NG_008764.1 29751 bp
Transcript RefSeq NM_017882.2 2258 bp
Protein RefSeq NP_060352.1 311 aa
No. patients 125
No. families 104
Additional notes
DB Patient ID Other Patient ID Allele 1 nt (aa) Allele 2 nt (aa) Changes in the same gene Changes in other genes Phenotype Age of onset Histology Country of origin Country of Residence Reference PMID Notes Notes 2
Pa-cln6.001 350_Wheeler_2002 p.Ala3Argfs*30 p.Ala3Argfs*30 vLINCL Greece Wheeler et al., 2002 11727201
Pa-cln6.002 151_Wheeler_2002 p.Glu72* p.Glu72* vLINCL Costa Rica Wheeler et al., 2002 11727201 Founder effect Founder effect
Pa-cln6.003 152_Wheeler_2002 p.Glu72* p.Glu72* vLINCL Costa Rica Wheeler et al., 2002 11727201 Founder effect Founder effect
Pa-cln6.004 153_Wheeler_2002 p.Glu72* p.Glu72* vLINCL Costa Rica Wheeler et al., 2002 11727201 Founder effect Founder effect
Pa-cln6.005 154_Wheeler_2002 p.Glu72* p.Glu72* vLINCL Costa Rica Wheeler et al., 2002 11727201 Founder effect Founder effect
Pa-cln6.006 155_Wheeler_2002 p.Glu72* p.Glu72* vLINCL Costa Rica Wheeler et al., 2002 11727201 Founder effect Founder effect
Pa-cln6.007 156_Wheeler_2002 p.Glu72* p.Glu72* vLINCL Costa Rica Wheeler et al., 2002 11727201 Founder effect Founder effect
Pa-cln6.008 158_Wheeler_2002 or 158_Sharp_2003 p.Glu72* p.Met241Thr vLINCL FP / CL Costa Rica Wheeler et al., 2002                                 Sharp et al., 2003 12815591
Pa-cln6.009 202_Wheeler_2002 p.Arg106Profs*26 vLINCL Pakistan Wheeler et al., 2002 11727201 Founder effect Founder effect
Pa-cln6.010 233_Wheeler_2002 p.Arg106Profs*26 p.Arg106Profs*26 vLINCL Pakistan Wheeler et al., 2002 11727201 Founder effect Founder effect
Pa-cln6.011 423_Wheeler_2002 p.Arg106Profs*26 p.Arg106Profs*26 vLINCL Pakistan Wheeler et al., 2002 11727201 Founder effect Founder effect
Pa-cln6.012 157_Wheeler_2002 p.Gly123Asp p.Gly123Asp vLINCL Costa Rica Wheeler et al., 2002 11727201
Pa-cln6.013 318_Wheeler_2002 p.Ser132Cysfs*18 p.Ser132Cysfs*18 vLINCL India Wheeler et al., 2002 11727201
Pa-cln6.014 174_Wheeler_2002 p.Ile154del p.Ile154del vLINCL Portugal Wheeler et al., 2002 11727201 May be within 5-10_Teixeira_2003
Pa-cln6.015 364_Wheeler_2002 or 364_Sharp_2003 p.Ile154del p.Val277Profs*5 vLINCL FP / CL Portugal Wheeler et al., 2002                                 Sharp et al., 2003 11727201 May be 2_Teixeira_2003
Pa-cln6.016 1_Gao_2002 p.Glu72* p.Glu72* vLINCL FP / CL Costa Rica Gao et al., 2002 11791207 Founder effect Founder effect
Pa-cln6.017 2_Gao_2002 p.Glu72* p.Glu72* vLINCL FP / CL Costa Rica Gao et al., 2002 11791207 Founder effect Founder effect
Pa-cln6.018 3_Gao_2002 p.Glu72* p.Glu72* vLINCL FP / CL Costa Rica Gao et al., 2002 11791207 Founder effect Founder effect
Pa-cln6.019 4_Gao_2002 p.Glu72* p.Glu72* vLINCL FP / CL Costa Rica Gao et al., 2002 11791207 Founder effect Founder effect
Pa-cln6.020 5_Gao_2002 p.Glu72* p.Glu72* vLINCL FP / CL Costa Rica Gao et al., 2002 11791207 Founder effect Founder effect
Pa-cln6.021 6_Gao_2002 p.Glu72* p.Glu72* vLINCL FP / CL Costa Rica Gao et al., 2002 11791207 Founder effect Founder effect
Pa-cln6.022 7_Gao_2002 p.Glu72* p.Glu72* vLINCL FP / CL Costa Rica Gao et al., 2002 11791207 Founder effect Founder effect
Pa-cln6.023 8_Gao_2002 p.Glu72* p.Glu72* vLINCL FP / CL Costa Rica Gao et al., 2002 11791207 Founder effect Founder effect
Pa-cln6.024 9_Gao_2002 p.Glu72* p.Glu72* vLINCL FP / CL Costa Rica Gao et al., 2002 11791207 Founder effect Founder effect
Pa-cln6.025 10_Gao_2002 p.Glu72* p.Glu72* vLINCL FP / CL Costa Rica Gao et al., 2002 11791207 Founder effect Founder effect
Pa-cln6.026 11_Gao_2002 p.Glu72* p.Glu72* vLINCL FP / CL Costa Rica Gao et al., 2002 11791207 Founder effect Founder effect
Pa-cln6.027 12_Gao_2002 p.Glu72* p.Glu72* vLINCL FP / CL Costa Rica Gao et al., 2002 11791207 Founder effect Founder effect
Pa-cln6.028 13_Gao_2002 p.Glu72* p.Glu72* vLINCL FP / CL Costa Rica Gao et al., 2002 11791207 Founder effect Founder effect
Pa-cln6.029 14_Gao_2002 p.Tyr172del p.Tyr172del vLINCL FP / CL Venezuela Gao et al., 2002 11791207
Pa-cln6.030 1_Teixeira_2003 p.Val91Glufs*42 p.Trp300Arg vLINCL FP / CL USA Teixeira et al., 2003a 12673792  (Iris/Irish-French Can-native American)
Pa-cln6.031 2_Teixeira_2003 c.486+1G>T c.486+1G>T     vLINCL   FP / CL India   Teixeira et al., 2003a 12673792 Siblings  
Pa-cln6.032 3_Teixeira_2003 c.486+1G>T c.486+1G>T     vLINCL   FP / CL India   Teixeira et al., 2003a 12673792 Siiblings  
Pa-cln6.033 4_Teixeira_2003 p.Ile154del p.Val277Profs*5 vLINCL FP / CL Portugal Teixeira et al., 2003a 12673792 May be UCL364 Founder effect
Pa-cln6.034 413_Teixeira_2003 p.Val277Profs*5 p.Val277Profs*5 vLINCL FP / CL Portugal Teixeira et al., 2003a 12673792
Pa-cln6.035 5_Teixeira_2003 p.Ile154del p.Ile154del     vLINCL   FP / CL Portugal   Teixeira et al., 2003a 12673792 these 6 pa come from 4 families and may overlap UCL174 Founder effect
Pa-cln6.036 6_Teixeira_2003 p.Ile154del p.Ile154del vLINCL FP / CL Portugal Teixeira et al., 2003a 12673792 these 6 pa come from 4 families Founder effect
Pa-cln6.037 7_Teixeira_2003 p.Ile154del p.Ile154del vLINCL FP / CL Portugal Teixeira et al., 2003a 12673792 these 6 pa come from 4 families Founder effect
Pa-cln6.038 8_Teixeira_2003 p.Ile154del p.Ile154del vLINCL FP / CL Portugal Teixeira et al., 2003a 12673792 these 6 pa come from 4 families Founder effect
Pa-cln6.039 9_Teixeira_2003 p.Ile154del p.Ile154del vLINCL FP / CL Portugal Teixeira et al., 2003a 12673792 these 6 pa come from 4 families Founder effect
Pa-cln6.040 10_Teixeira_2003 p.Ile154del p.Ile154del     vLINCL   FP / CL Portugal   Teixeira et al., 2003a 12673792 these 6 pa come from 4 families Founder effect
Pa-cln6.041 372_Sharp_2003 p.Arg62His c.198+2dupT vLINCL FP / CL Italy / Portugal Sharp et al., 2003 12815591
Pa-cln6.042 415_Sharp_2003 p.Glu72Gln p.Glu72Gln vLINCL FP / CL India Sharp et al., 2003 12815591
Pa-cln6.043 297_Sharp_2003 p.Tyr221Ser p.Tyr221Ser vLINCL FP / CL Argentina Sharp et al., 2003 12815591
Pa-cln6.044 422_Sharp_2003 p.Ser265del p.Ser265del vLINCL FP / CL Sudan Sharp et al., 2003 12815591
Pa-cln6.045 355_Sharp_2003 p.Pro299Leu p.Pro299Leu vLINCL FP / CL Italy Sharp et al., 2003 12815591
Pa-cln6.046 A1_Al-Muhaizea_2009 c.83+?_297+?del c.83+?_297+?del     vLINCL 2y present Saudi Arabia   Al-Muhaizea et al., 2009 19520283 Siblings Intragenic deletion
Pa-cln6.047 A2_Al-Muhaizea_2009 c.83+?_297+?del c.83+?_297+?del     vLINCL 2y present Saudi Arabia   Al-Muhaizea et al., 2009 19520283 Siblings Intragenic deletion
Pa-cln6.048 B_Al-Muhaizea_2009 p.Ser132Cysfs*18 p.Ser132Cysfs*18 vLINCL 1y present Saudi Arabia Al-Muhaizea et al., 2009 19520283
Pa-cln6.049 C_Al-Muhaizea_2009 p.Ser265del p.Ser265del vLINCL 3y present Saudi Arabia Al-Muhaizea et al., 2009 19520283 Parents consanguineous
Pa-cln6.050 1_Cannelli_2009 p.Tyr221Cys p.Tyr221Cys vLINCL 5y FP / CL Sardinia, Italy Cannelli et al., 2009 19135028
Pa-cln6.051 2_Cannelli_2009 p.Arg136Cys p.Tyr142*     vLINCL 5y not done Italy   Cannelli et al., 2009 19135028 Siblings  
Pa-cln6.052 3_Cannelli_2009 p.Arg136Cys p.Tyr142* vLINCL 4y FP / CL Italy Cannelli et al., 2009 19135028 Siblings  
Pa-cln6.053 4_Cannelli_2009 p.Ser132Cysfs*18 p.Phe239Profs*29     vLINCL 3y FP / CL Italy   Cannelli et al., 2009 19135028 Siblings  
Pa-cln6.054 5_Cannelli_2009 p.Ser132Cysfs*18 p.Phe239Profs*29     vLINCL 3y FP / CL Italy   Cannelli et al., 2009 19135028 Siblings  
Pa-cln6.055 6_Cannelli_2009 p.Asp173Glufs*33 p.Pro299Leu vLINCL 5y FP / CL / dense bodies Italy Cannelli et al., 2009 19135028
Pa-cln6.056 7_Cannelli_2009 p.Leu162Arg p.Ser265del vLINCL 5y FP Italy Cannelli et al., 2009 19135028
Pa-cln6.057 8_Cannelli_2009 p.Ser132Cysfs*18 p.Pro299Leu vLINCL 4y FP / CL Italy Cannelli et al., 2009 19135028
Pa-cln6.058 9_Cannelli_2009 p.Arg62Cys p.Tyr221Cys     vLINCL 3y FP Sardinia, Italy   Cannelli et al., 2009 19135028 Siblings  
Pa-cln6.059 10_Cannelli_2009 p.Arg62Cys p.Tyr221Cys     vLINCL 2y FP / CL Sardinia, Italy   Cannelli et al., 2009 19135028 Siblings  
Pa-cln6.060 11_Cannelli_2009 p.Pro299Leu p.Ser132Cysfs*18 vLINCL 4y FP / CL Italy Cannelli et al., 2009 19135028
Pa-cln6.061 12_Cannelli_2009 p.Gly259Val p.Gly259Val vLINCL 2y FP / CL Italy Cannelli et al., 2009 19135028
Pa-cln6.062 13_Cannelli_2009 p.Pro299Leu p.Pro299Leu vLINCL 4y FP / CL Italy Cannelli et al., 2009 19135028
Pa-cln6.063 8MA_Cismondi_2008 p.Arg103Trp p.Phe185Leufs*17 c.198+104T>C vLINCL 2y FP Argentina Cismondi et al., 2008 18846690
Pa-cln6.064 N1403_Kousi_2009 p.Pro159Leu p.Pro159Leu CLN5:  p.Arg2Cys LINCL n.a. n.a. Turkey Kousi et al., 2009 19201763
Pa-cln6.065 1_Moore_2008 p.Val91Glufs*42 p.Val91Glufs*42     vLINCL n.a. n.a. Newfoundland   Moore et al., 2008 18684116 Siblings  
Pa-cln6.066 2_Moore_2008 p.Val91Glufs*42 p.Val91Glufs*42 vLINCL n.a. n.a. Newfoundland Moore et al., 2008 18684116 Siblings  
Pa-cln6.067 3_Moore_2008 p.Val91Glufs*42 p.Val91Glufs*42     vLINCL n.a. n.a. Newfoundland   Moore et al., 2008 18684116 Siblings  
Pa-cln6.068 4_Moore_2008 p.Val91Glufs*42 p.Val91Glufs*42     vLINCL n.a. n.a. Newfoundland   Moore et al., 2008 18684116 Siblings  
Pa-cln6.069 5_Moore_2008 p.Val91Glufs*42 p.Val91Glufs*42 vLINCL n.a. n.a. Newfoundland Moore et al., 2008 18684116
Pa-cln6.070 6_Moore_2008 p.Val91Glufs*42 p.Val91Glufs*42 vLINCL n.a. n.a. Newfoundland Moore et al., 2008 18684116
Pa-cln6.071 7_Moore_2008 p.Val91Glufs*42 p.Val91Glufs*42 vLINCL n.a. n.a. Newfoundland Moore et al., 2008 18684116
Pa-cln6.072 20_Siintola_2005 p.Tyr221* p.Tyr221*     vLINCL 5y FP Turkey   Siintola et al., 2005 15996215 Siblings  
Pa-cln6.073 20S_Siintola_2005 p.Tyr221* p.Tyr221*     vLINCL 2.5y   Turkey   Siintola et al., 2005 15996215 Siblings  
Pa-cln6.074 9124_Siintola_2005 c.524+5G>T c.524+5G>T vLINCL n.a. FP / CL Turkey Siintola et al., 2005 15996215
Pa-cln6.075 Ku1_II4_Arsov_2011 p.Leu67Pro p.Arg103Gln     Kufs type A 36y FP / GROD Italy   Arsov et al., 2011 21549341 Siblings  
Pa-cln6.076 Ku1_II5_Arsov_2011 p.Leu67Pro p.Arg103Gln     Kufs type A 16y FP / GROD Italy   Arsov et al., 2011 21549341 Siblings  
Pa-cln6.077 Ku2_IV1_Arsov_2011 p.Leu47Phe p.Leu47Phe Kufs type A 28y FP / GROD Italy Arsov et al., 2011 21549341
Pa-cln6.078 Ku3_II2_Arsov_2011 p.Arg6Thr p.Arg6Thr Kufs type A 31y FP / GROD Italy Canada Arsov et al., 2011 21549341
Pa-cln6.079 Ku5_II2_Arsov_2011 p.Phe238Thr p.Phe238Thr     Kufs type A 46y FP / GROD Malta Australia Arsov et al., 2011 21549341 Siblings  
Pa-cln6.080 Ku5_II3_Arsov_2011 p.Phe238Thr p.Phe238Thr     Kufs type A 51y FP / GROD Malta Australia Arsov et al., 2011 21549341 Siblings  
Pa-cln6.081 Ku6_II1_Arsov_2011 p.Phe238Thr p.Phe238Thr Kufs type A 17y FP / GROD Italy Arsov et al., 2011 21549341
Pa-cln6.082 Ku7_II1_Arsov_2011 p.Arg149His p.Pro297Leufs*53     Kufs type A 35y FP / GROD Ireland   Arsov et al., 2011 21549341 Siblings  
Pa-cln6.083 Ku7_II2_Arsov_2011 p.Arg149His p.Pro297Leufs*53     ANCL 43y FP / GROD Ireland   Arsov et al., 2011 21549341 Siblings  
Pa-cln6.084 Ku8_II1_Arsov_2011 p.Tyr50X* p.Asn77Lys p.Ser308Thr ANCL FP / GROD USA Arsov et al., 2011 21549341
Pa-cln6.085 Ku12_Arsov_2011 p.Ala34Thr Kufs type B 37y FP / GROD Italy Arsov et al., 2011 21549341
Pa-cln6.086 7-0106_Kousi_2011_novel p.Arg252His c.486+8C>T c.198+104T>C LINCL FP / CL Argentina Kousi et al., 2012 21990111
Pa-cln6.087 CZR32_Kousi_2011_novel p.Leu162Arg p.Ser265del Czech Republic Kousi et al., 2012 21990111
Pa-cln6.088 CZR33_Kousi_2011_novel p.Ser104Phe p.Leu169Pro Czech Republic Kousi et al., 2012 21990111
Pa-cln6.089 ITA8_Kousi_2011_novel p.Phe234Leu p.Phe234Leu vLINCL Italy Kousi et al., 2012 21990111
Pa-cln6.090 ITA9_Kousi_2011_novel p.Ala243Profs*26 p.Pro299Leu vLINCL Italy/Libya Kousi et al., 2012 21990111
Pa-cln6.091 34256_Kousi_2011_novel p.Ser132Cysfs*18 p.Ser132Cysfs*18 UK Kousi et al., 2012 21990111
Pa-cln6.092 99999_Kousi_2011_novel p.Phe185Leufs*17 p.Arg252His c.486+8C>T UK Kousi et al., 2012 21990111
Pa-cln6.093 56656_Kousi_2011_novel p.Ser265del p.Ser265del UK Kousi et al., 2012 21990111
Pa-cln6.094 58738_Kousi_2011_novel p.Arg106Profs*26 p.Arg106Profs*26 UK Kousi et al., 2012 21990111
Pa-cln6.095 N12703_Kousi_2011_novel p.Ala12Thr Turkey Kousi et al., 2012 21990111
Pa-cln6.096 N6303_Kousi_2011_novel p.Gly17Ser 11y Turkey Kousi et al., 2012 21990111
Pa-cln6.097 N14203_Kousi_2011_novel c.298-6C>T Turkey Kousi et al., 2012 21990111
Pa-cln6.098 N8503_Kousi_2011_novel p.Arg136Cys p.Arg136Cys Turkey Kousi et al., 2012 21990111
Pa-cln6.099 N7203_Kousi_2011_novel p.Tyr172* p.Tyr172* Turkey Kousi et al., 2012 21990111
Pa-cln6.100 N14703_Kousi_2011_novel p.Phe186Ser p.Phe186Ser LINCL 2y FP, CL India Kousi et al., 2012 21990111
Pa-cln6.101 N3103_Kousi_2011_novel p.Tyr221Ser p.Tyr221Ser 7y Turkey Kousi et al., 2012 21990111
Pa-cln6.102 N4203_Kousi_2011_novel p.Tyr221Ser p.Tyr221Ser 3y Turkey Kousi et al., 2012 21990111
Pa-cln6.103 N6803_Kousi_2011_novel p.Tyr221* p.Tyr221* Turkey Kousi et al., 2012 21990111
Pa-cln6.104 N4003_Kousi_2011_novel p.Ser265del p.Ser265del Turkey Kousi et al., 2012 21990111
Pa-cln6.105 N7603_Kousi_2011_novel p.Ser265del p.Ser265del CLN5:  p.Arg2Cys Turkey Kousi et al., 2012 21990111
Pa-cln6.106 N11703_Kousi_2011_novel p.Ser265del p.Ser265del Turkey Kousi et al., 2012 21990111
Pa-cln6.107 N15203_Kousi_2011_novel p.Gly259Ser p.Gly259Ser     vLINCL 3y6mo   India   Kousi et al., 2012 21990111 Assume siblings c.775G>A is p.Arg252His; c.797G>A is p.Gly259Ser.
Pa-cln6.108 N15204_Kousi_2011_novel p.Gly259Ser p.Gly259Ser vLINCL 3y6mo India Kousi et al., 2012 21990111 Assume siblings  
Pa-cln6.109 N15205_Kousi_2011_novel p.Gly259Ser p.Gly259Ser     vLINCL 3y6mo   India   Kousi et al., 2012 21990111 Assume siblings  
Pa-cln6.110 N15903_Kousi_2011_novel p.Asn90Lys p.Asn90Lys vLINCL India Kousi et al., 2012 21990111
Pa-cln6.111 GOS1_Kousi_2011_novel p.Pro297Thr p.Pro297Thr vLINCL Pakistan Kousi et al., 2012 (Chandler pers comm to NCL database) 21990111
Pa-cln6.112 LUMC001_Kousi_2011_novel p.Tyr84Serfs*32 p.Tyr84Serfs*32 China The Netherlands Kousi et al., 2012 (Niezen de Boer pers comm to NCL database) 21990111
Pa-cln6.113 LUMC002_Kousi_2011_novel p.Ile154del p.Ile154del Arabic origin Kousi et al., 2012 21990111
Pa-cln6.114 RAY38_Kousi_2011_novel c.298-13C>T Canada Kousi et al., 2012 21990111
Pa-cln6.115 RAY41_Kousi_2011_novel p.Arg149Cys p.Arg149Cys Canada Kousi et al., 2012 (Ray pers comm to NCL database) 21990111
Pa-cln6.116 RAY49_Kousi_2011_novel c.298-6C>T Canada Kousi et al., 2012 21990111
Pa-cln6.117 RAY51_Kousi_2011_novel c.486+8C>T Canada Kousi et al., 2012 21990111
Pa-cln6.118 DAT50_Kousi_2011_Novel; DAT52_Kousi_2011_Novel p.Arg5Trp p.Asp83His USA Kousi et al, 2012 (Freehauf personal communication to NCL database) 21990111
Pa-cln6.119 DAT51_Kousi_2011_Novel p.Pro70Leu p.Arg103Gln Canada Kousi et al., 2012 (Armour personal communication to NCL database) 21990111
Pa-cln6.120 DAT53_Kousi_2011_Novel p.Asp83Val p.Asp83Val UK USA Kousi et al., 2012 (Garavaglia personal communication to NCL database) 21990111
Pa-cln6.121 DAT54_Kousi_2011_novel; DAT55_Kousi_2011_novel p.Ile119_Phe120insIle p.Pro297Leufs*53 USA Kousi et al., 2012 (Sims personal communication to NCL database) 21990111 Entry in original mut table as  c.357_358insATC cln6.029.  Kousi met al 2012 reads c.358_360insATC; p.Phe120dup. 
Pa-cln6.122 DAT59_Kousi_2011_novel; DAT60_Kousi_2011_novel p.Thr93Met p.Leu128Val ANCL USA Kousi et al., 2012 (Sims personal communication to NCL database) 21990111
Pa-cln6.123 1_Andrade_2012 p.Asp256Glu p.Asp256Glu     teenage NCL 15 y none detected Afghanistan   Andrade et al., 2012 22883287 cousin
Pa-cln6.124 2_Andrade_2012 p.Asp256Glu p.Asp256Glu teenage NCL 15 y none detected Afghanistan Andrade et al., 2012 22883287 siblings
Pa-cln6.125 3_Andrade_2012 p.Asp256Glu p.Asp256Glu     teenage NCL 15 y none detected Afghanistan   Andrade et al., 2012 22883287 siblings
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
Boxed/coloured patients are siblings