Gene Symbol CLN2/TPP1
Gene ID 1200 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 , SCAR7 = autosomal recessive spinocerebellar ataxia, 7
Chromosomal Location 11p15 GROD - Granular Osmiophilic Deposits, CL - Curvilinear, RL- Rectilinear, FP - Fingerprint, condensed
Genomic RefSeqGene NG_008653.1 13696 bp
Transcript RefSeq NM_000391.3 3540 bp NA - not available or not applicable
Protein RefSeq NP_000382.3 563 aa
No. of patients 389
No. of families 316
Additional notes In October 2018, the table has been reformatted so that each patient has two rows: one for each disease allele. All other information in the individual patient's rows has been duplicated.
  REL# Other Patient ID mutation number Allele Changes in the same gene Changes in other genes NCL Phenotype or other disease Age of onset (y) Histology Country of origin other ethnic detail Country of residence Reference PMID Notes
Pa-cln2.001 C7787_Sleat_1997 cln2.004 c.509-1G>C late infantile NA NA Ireland / Scotland / England Sleat et al., 1997 9295267
Pa-cln2.001 C7787_Sleat_1997 cln2.001 p.(Arg208*) late infantile NA NA Ireland / Scotland / England Sleat et al., 1997 9295267
Pa-cln2.002 1_Zhong_1998 cln2.004 c.509-1G>C late infantile NA NA USA Wisniewski et al., 1998 9492089
Pa-cln2.002 1_Zhong_1998 cln2.004 c.509-1G>C late infantile NA NA USA Wisniewski et al., 1998 9492089
Pa-cln2.003 2_Zhong_1998 cln2.004 c.509-1G>C late infantile NA NA USA Wisniewski et al., 1999 9492089
Pa-cln2.003 2_Zhong_1998 cln2.004 c.509-1G>C late infantile NA NA USA Wisniewski et al., 1999 9492089
Pa-cln2.004 3_Zhong_1998 cln2.001 p.(Arg208*) late infantile NA NA USA Wisniewski et al., 2000 9492089
Pa-cln2.004 3_Zhong_1998 cln2.001 p.(Arg208*) late infantile NA NA USA Wisniewski et al., 2000 9492089
Pa-cln2.005 4_Zhong_1998 cln2.004 c.509-1G>C late infantile NA NA USA Wisniewski et al., 2001 9492089
Pa-cln2.005 4_Zhong_1998 cln2.001 p.(Arg208*) late infantile NA NA USA Wisniewski et al., 2001 9492089
Pa-cln2.006 5_Zhong_1998 cln2.004 c.509-1G>C late infantile NA NA USA Wisniewski et al., 2002 9492089
Pa-cln2.006 5_Zhong_1998 cln2.001 p.(Arg208*) late infantile NA NA USA Wisniewski et al., 2002 9492089
Pa-cln2.007 6_Zhong_1998 cln2.004 c.509-1G>C late infantile NA NA USA Wisniewski et al., 2003 9492089
Pa-cln2.007 6_Zhong_1998 cln2.001 p.(Arg208*) late infantile NA NA USA Wisniewski et al., 2003 9492089
Pa-cln2.008 7_Zhong_1998 cln2.004 c.509-1G>C late infantile NA NA USA Wisniewski et al., 2004 9492089
Pa-cln2.008 7_Zhong_1998 NA not identified late infantile NA NA USA Wisniewski et al., 2004 9492089
Pa-cln2.009 8_Zhong_1998 cln2.004 c.509-1G>C late infantile NA NA USA Wisniewski et al., 2005 9492089
Pa-cln2.009 8_Zhong_1998 NA not identified late infantile NA NA USA Wisniewski et al., 2005 9492089
Pa-cln2.010 9_Zhong_1998 cln2.004 c.509-1G>C late infantile NA NA USA Wisniewski et al., 2006 9492089
Pa-cln2.010 9_Zhong_1998 NA not identified late infantile NA NA USA Wisniewski et al., 2006 9492089
Pa-cln2.011 10_Zhong_1998 cln2.004 c.509-1G>C late infantile NA NA USA Wisniewski et al., 2007 9492089
Pa-cln2.011 10_Zhong_1998 NA not identified late infantile NA NA USA Wisniewski et al., 2007 9492089
Pa-cln2.012 11_Zhong_1998 NA not identified late infantile NA NA USA Wisniewski et al., 2008 9492089
Pa-cln2.012 11_Zhong_1998 cln2.001 p.(Arg208*) late infantile NA NA USA Wisniewski et al., 2008 9492089
Pa-cln2.013 IGF032/85_Sleat_1999 cln2.010 p.(Gln66*) late infantile 3 CV Italy Sleat et al., 1999 10330339
Pa-cln2.013 IGF032/85_Sleat_1999 cln2.010 p.(Gln66*) late infantile 3 CV Italy Sleat et al., 1999 10330339
Pa-cln2.014 GUS15820_Sleat_1999 cln2.004 c.509-1G>C late infantile 3 CV Spain / France / England / Ireland / USA Native American USA Sleat et al., 1999 10330339
Pa-cln2.014 GUS15820_Sleat_1999 cln2.011 p.(Gln75Gln) late infantile 3 CV Spain / France / England / Ireland / USA Native American USA Sleat et al., 1999 10330339
Pa-cln2.015 KEW1_Sleat_1999 cln2.004 c.509-1G>C late infantile 3 CV / GROD Ireland / USA /  Germany Native American Sleat et al., 1999 10330339
Pa-cln2.015 KEW1_Sleat_1999 cln2.012 p.(Gly77Arg) late infantile 3 CV / GROD Ireland / USA /  Germany Native American Sleat et al., 1999 10330339
Pa-cln2.016 CABM006_Sleat_1999 cln2.021 p.(Gly389Glu) cln2.033 late infantile 2.2 FP Romany Sleat et al., 1999 10330339
Pa-cln2.016 CABM006_Sleat_1999 cln2.021 p.(Gly389Glu) cln2.033 late infantile 2.2 FP Romany Sleat et al., 1999 10330339
Pa-cln2.017 IGF087/79_Sleat_1999 cln2.021 p.(Gly389Glu) cln2.033 late infantile 3 CV Romany Sleat et al., 1999 10330339
Pa-cln2.017 IGF087/79_Sleat_1999 cln2.021 p.(Gly389Glu) cln2.033 late infantile 3 CV Romany Sleat et al., 1999 10330339
Pa-cln2.018 BD00224_Sleat_1999 cln2.001 p.(Arg208*) late infantile 3 CV Germany Sleat et al., 1999 10330339
Pa-cln2.018 BD00224_Sleat_1999 cln2.013 p.(Ile126Argfs*8) late infantile 3 CV Germany Sleat et al., 1999 10330339
Pa-cln2.019 2740_Sleat_1999 cln2.001 p.(Arg208*) late infantile NA NA NA Sleat et al., 1999 10330339
Pa-cln2.019 2740_Sleat_1999 cln2.013 p.(Ile126Argfs*8) late infantile NA NA NA Sleat et al., 1999 10330339
Pa-cln2.020 CABM011_Sleat_1999 cln2.014 p.(Arg127*) late infantile 3 CV Mexico Sleat et al., 1999 10330339
Pa-cln2.020 CABM011_Sleat_1999 cln2.001 p.(Arg208*) late infantile 3 CV Mexico Sleat et al., 1999 10330339
Pa-cln2.021 C10516_Sleat_1999 cln2.007 c.509-1G>A late infantile 3.5 CV / FP England / Scotland Sleat et al., 1999 10330339
Pa-cln2.021 C10516_Sleat_1999 cln2.004 c.509-1G>C late infantile 3.5 CV / FP England / Scotland Sleat et al., 1999 10330339
Pa-cln2.022 DNP1_Sleat_1999 cln2.007 c.509-1G>A late infantile 3 CV England / The Netherlands Sleat et al., 1999 10330339
Pa-cln2.022 DNP1_Sleat_1999 cln2.004 c.509-1G>C late infantile 3 CV England / The Netherlands Sleat et al., 1999 10330339
Pa-cln2.023 GUS26235__Sleat_1999 cln2.007 c.509-1G>A late infantile 3.5 CV England / Germany Sleat et al., 1999 10330339
Pa-cln2.023 GUS26235__Sleat_1999 cln2.022 p.(Gln422His) late infantile 3.5 CV England / Germany Sleat et al., 1999 10330339
Pa-cln2.024 BD00173_Sleat_1999 cln2.004 c.509-1G>C late infantile 3 CV England / Germany Sleat et al., 1999 10330339
Pa-cln2.024 BD00173_Sleat_1999 cln2.004 c.509-1G>C late infantile 3 CV England / Germany Sleat et al., 1999 10330339
Pa-cln2.025 C10557_Sleat_1999 cln2.004 c.509-1G>C late infantile 3 CV England / Ireland Sleat et al., 1999 10330339
Pa-cln2.025 C10557_Sleat_1999 cln2.004 c.509-1G>C late infantile 3 CV England / Ireland Sleat et al., 1999 10330339
Pa-cln2.026 C8878_Sleat_1999 cln2.004 c.509-1G>C late infantile 2.5 CV Sweden / England / Ireland / Scotland / Norway Sleat et al., 1999 10330339
Pa-cln2.026 C8878_Sleat_1999 cln2.004 c.509-1G>C late infantile 2.5 CV Sweden / England / Ireland / Scotland / Norway Sleat et al., 1999 10330339
Pa-cln2.027 CABM001_Sleat_1999 cln2.004 c.509-1G>C late infantile 3.5 CV Germany Sleat et al., 1999 10330339
Pa-cln2.027 CABM001_Sleat_1999 cln2.004 c.509-1G>C late infantile 3.5 CV Germany Sleat et al., 1999 10330339
Pa-cln2.028 CABM004_Sleat_1999 cln2.004 c.509-1G>C late infantile 3 CV Scotland / Ireland Sleat et al., 1999 10330339
Pa-cln2.028 CABM004_Sleat_1999 cln2.004 c.509-1G>C late infantile 3 CV Scotland / Ireland Sleat et al., 1999 10330339
Pa-cln2.029 CABM009_Sleat_1999 cln2.004 c.509-1G>C late infantile 3.3 CV England-Ireland / England-Sweden Sleat et al., 1999 10330339
Pa-cln2.029 CABM009_Sleat_1999 cln2.004 c.509-1G>C late infantile 3.3 CV England-Ireland / England-Sweden Sleat et al., 1999 10330339
Pa-cln2.030 CABM017_Sleat_1999 cln2.004 c.509-1G>C late infantile 3.5 CV England-Ireland / Germany-India Sleat et al., 1999 10330339
Pa-cln2.030 CABM017_Sleat_1999 cln2.004 c.509-1G>C late infantile 3.5 CV England-Ireland / Germany-India Sleat et al., 1999 10330339
Pa-cln2.031 BD00219_Sleat_1999 cln2.004 c.509-1G>C late infantile 3 CV England Sleat et al., 1999 10330339
Pa-cln2.031 BD00219_Sleat_1999 cln2.001 p.(Arg208*) late infantile 3 CV England Sleat et al., 1999 10330339
Pa-cln2.032 BD00431_Sleat_1999 cln2.004 c.509-1G>C late infantile 2 CV Canada Sleat et al., 1999 10330339
Pa-cln2.032 BD00431_Sleat_1999 cln2.001 p.(Arg208*) late infantile 2 CV Canada Sleat et al., 1999 10330339
Pa-cln2.033 C7153_Sleat_1999 cln2.004 c.509-1G>C late infantile 2 CV England / Germany Sleat et al., 1999 10330339
Pa-cln2.033 C7153_Sleat_1999 cln2.001 p.(Arg208*) late infantile 2 CV England / Germany Sleat et al., 1999 10330339
Pa-cln2.034 C9542_Sleat_1999 cln2.004 c.509-1G>C late infantile 2 CV Germany / Ireland-Scotland Sleat et al., 1999 10330339
Pa-cln2.034 C9542_Sleat_1999 cln2.001 p.(Arg208*) late infantile 2 CV Germany / Ireland-Scotland Sleat et al., 1999 10330339
Pa-cln2.035 CABM0015_Sleat_1999 cln2.004 c.509-1G>C late infantile 3 CV Germany -Czech Republic / Canada-USA Native American Sleat et al., 1999 10330339
Pa-cln2.035 CABM0015_Sleat_1999 cln2.001 p.(Arg208*) late infantile 3 CV Germany -Czech Republic / Canada-USA Native American Sleat et al., 1999 10330339
Pa-cln2.036 CABM002_Sleat_1999 cln2.004 c.509-1G>C late infantile 2.9 CV Denmark Sleat et al., 1999 10330339
Pa-cln2.036 CABM002_Sleat_1999 cln2.001 p.(Arg208*) late infantile 2.9 CV Denmark Sleat et al., 1999 10330339
Pa-cln2.037 CABM003_Sleat_1999 cln2.004 c.509-1G>C late infantile 3.8 CV Northern Europe Sleat et al., 1999 10330339
Pa-cln2.037 CABM003_Sleat_1999 cln2.001 p.(Arg208*) late infantile 3.8 CV Northern Europe Sleat et al., 1999 10330339
Pa-cln2.038 CABM005_Sleat_1999 cln2.004 c.509-1G>C late infantile 2.3 CV England / Scotland Sleat et al., 1999 10330339
Pa-cln2.038 CABM005_Sleat_1999 cln2.001 p.(Arg208*) late infantile 2.3 CV England / Scotland Sleat et al., 1999 10330339
Pa-cln2.039 CABM016_Sleat_1999 cln2.004 c.509-1G>C late infantile 3 CV England / Ireland / Scotland Sleat et al., 1999 10330339
Pa-cln2.039 CABM016_Sleat_1999 cln2.001 p.(Arg208*) late infantile 3 CV England / Ireland / Scotland Sleat et al., 1999 10330339
Pa-cln2.040 GUS18769_Sleat_1999 cln2.004 c.509-1G>C late infantile 3 CV England / Ireland / USA Native American Sleat et al., 1999 10330339
Pa-cln2.040 GUS18769_Sleat_1999 cln2.001 p.(Arg208*) late infantile 3 CV England / Ireland / USA Native American Sleat et al., 1999 10330339
Pa-cln2.041 GUS26230_Sleat_1999 cln2.004 c.509-1G>C late infantile NA NA France / Ireland / Germany Sleat et al., 1999 10330339
Pa-cln2.041 GUS26230_Sleat_1999 cln2.001 p.(Arg208*) late infantile NA NA France / Ireland / Germany Sleat et al., 1999 10330339
Pa-cln2.042 C7788_Sleat_1999 cln2.004 c.509-1G>C late infantile 3 CV Ireland Scotland-England Sleat et al., 1999 10330339
Pa-cln2.042 C7788_Sleat_1999 cln2.001 p.(Arg208*) late infantile 3 CV Ireland Scotland-England Sleat et al., 1999 10330339
Pa-cln2.043 BD00397_Sleat_1999 cln2.004 c.509-1G>C late infantile 2 CV England / Scotland Sleat et al., 1999 10330339
Pa-cln2.043 BD00397_Sleat_1999 cln2.016 c.887-18A>G late infantile 2 CV England / Scotland Sleat et al., 1999 10330339
Pa-cln2.044 C9801_Sleat_1999 cln2.004 c.509-1G>C late infantile 3 CV France / Italy Sleat et al., 1999 10330339
Pa-cln2.044 C9801_Sleat_1999 cln2.017 p.(Ser324Argfs*2) late infantile 3 CV France / Italy Sleat et al., 1999 10330339
Pa-cln2.045 CABM007/8_Sleat_1999 cln2.004 c.509-1G>C late infantile 3 NA Finland-Sweden-Norway  / England-Scotland Sleat et al., 1999 10330339
Pa-cln2.045 CABM007/8_Sleat_1999 cln2.018 p.(Glu343Lys) late infantile 3 NA Finland-Sweden-Norway  / England-Scotland Sleat et al., 1999 10330339
Pa-cln2.046 CABM013/14_Sleat_1999 cln2.004 c.509-1G>C late infantile NA NA NA Sleat et al., 1999 10330339
Pa-cln2.046 CABM013/14_Sleat_1999 cln2.003 p.(Cys365Tyr) late infantile NA NA NA Sleat et al., 1999 10330339
Pa-cln2.047 1932_Sleat_1999 cln2.004 c.509-1G>C late infantile NA NA NA Sleat et al., 1999 10330339
Pa-cln2.047 1932_Sleat_1999 cln2.022 p.(Gln422His) late infantile NA NA NA Sleat et al., 1999 10330339
Pa-cln2.048 CABM010_Sleat_1999 cln2.004 c.509-1G>C late infantile 2.8 CV Denmark Sleat et al., 1999 10330339
Pa-cln2.048 CABM010_Sleat_1999 cln2.022 p.(Gln422His) late infantile 2.8 CV Denmark Sleat et al., 1999 10330339
Pa-cln2.049 KEW2_Sleat_1999 cln2.004 c.509-1G>C juvenile 7 CV / FP France / Germany / Ireland / Scotland / England Sleat et al., 1999 10330339
Pa-cln2.049 KEW2_Sleat_1999 cln2.006 p.(Arg447His)  juvenile 7 CV / FP France / Germany / Ireland / Scotland / England Sleat et al., 1999 10330339
Pa-cln2.050 F624/C6824_Sleat_1999 cln2.004 c.509-1G>C late infantile 3 CV / FP Czech Republic / Ukraine / Wales Sleat et al., 1999 10330339
Pa-cln2.050 F624/C6824_Sleat_1999 cln2.024 p.(Ser475Leu) late infantile 3 CV / FP Czech Republic / Ukraine / Wales Sleat et al., 1999 10330339
Pa-cln2.051 BD00134_Sleat_1999 cln2.001 p.(Arg208*) late infantile 2.5 CV England Sleat et al., 1999 10330339
Pa-cln2.051 BD00134_Sleat_1999 cln2.001 p.(Arg208*) late infantile 2.5 CV England Sleat et al., 1999 10330339
Pa-cln2.052 BD00463_Sleat_1999 cln2.001 p.(Arg208*) late infantile 2.9 CV Poland / Sweden / France / Bohemia Sleat et al., 1999 10330339
Pa-cln2.052 BD00463_Sleat_1999 cln2.001 p.(Arg208*) late infantile 2.9 CV Poland / Sweden / France / Bohemia Sleat et al., 1999 10330339
Pa-cln2.053 C7149_Sleat_1999 cln2.001 p.(Arg208*) late infantile 3 CV Norway / Germany / Poland Sleat et al., 1999 10330339
Pa-cln2.053 C7149_Sleat_1999 cln2.001 p.(Arg208*) late infantile 3 CV Norway / Germany / Poland Sleat et al., 1999 10330339
Pa-cln2.054 C8149_Sleat_1999 cln2.001 p.(Arg208*) late infantile 3 CV / FP Poland Sleat et al., 1999 10330339
Pa-cln2.054 C8149_Sleat_1999 cln2.001 p.(Arg208*) late infantile 3 CV / FP Poland Sleat et al., 1999 10330339
Pa-cln2.055 CABM012_Sleat_1999 cln2.001 p.(Arg208*) late infantile 3 NA Norway / Germany / Poland Sleat et al., 1999 10330339
Pa-cln2.055 CABM012_Sleat_1999 cln2.001 p.(Arg208*) late infantile 3 NA Norway / Germany / Poland Sleat et al., 1999 10330339
Pa-cln2.056 C11496_Sleat_1999 cln2.019 c.1075+2T>G late infantile 2 CV Italy Sleat et al., 1999 10330339
Pa-cln2.056 C11496_Sleat_1999 cln2.001 p.(Arg208*) late infantile 2 CV Italy Sleat et al., 1999 10330339
Pa-cln2.057 BD00385_Sleat_1999 cln2.001 p.(Arg208*) late infantile 3 CV / FP England / Germany / Hungary / Poland / Russia Sleat et al., 1999 10330339
Pa-cln2.057 BD00385_Sleat_1999 cln2.020 p.(Val385Asp) late infantile 3 CV / FP England / Germany / Hungary / Poland / Russia Sleat et al., 1999 10330339
Pa-cln2.058 BD00271_Sleat_1999 cln2.001 p.(Arg208*) late infantile 3 CV Poland / Germany Sleat et al., 1999 10330339
Pa-cln2.058 BD00271_Sleat_1999 cln2.022 p.(Gln422His late infantile 3 CV Poland / Germany Sleat et al., 1999 10330339
Pa-cln2.059 C11571_Sleat_1999 cln2.001 p.(Arg208*) late infantile 3 CV Mexico Sleat et al., 1999 10330339
Pa-cln2.059 C11571_Sleat_1999 cln2.022 p.(Gln422His late infantile 3 CV Mexico Sleat et al., 1999 10330339
Pa-cln2.060 KEW3_Sleat_1999 cln2.001 p.(Arg208*) late infantile 2.5 CV England / Ireland Sleat et al., 1999 10330339
Pa-cln2.060 KEW3_Sleat_1999 cln2.022 p.(Gln422His late infantile 2.5 CV England / Ireland Sleat et al., 1999 10330339
Pa-cln2.061 ANS1_Sleat_1999 cln2.001 p.(Arg208*) juvenile 8 CV / FP Germany / Ireland / Poland / England Sleat et al., 1999 10330339
Pa-cln2.061 ANS1_Sleat_1999 cln2.006 p.(Arg447His) juvenile 8 CV / FP Germany / Ireland / Poland / England Sleat et al., 1999 10330339
Pa-cln2.062 GUS26252_Sleat_1999 cln2.025 c.1552-1G>C NA NA NA NA Sleat et al., 1999 10330339
Pa-cln2.062 GUS26252_Sleat_1999 cln2.001 p.(Arg208*) NA NA NA NA Sleat et al., 1999 10330339
Pa-cln2.063 GM09404_Sleat_1999 NA not identified NA NA NA NA Sleat et al., 1999 10330339
Pa-cln2.063 GM09404_Sleat_1999 cln2.015 p.(Ile287Asn) NA NA NA NA Sleat et al., 1999 10330339
Pa-cln2.064 IGF056/87_Sleat_1999 cln2.017 p.(Ser324Argfs*2) late infantile 3 CV Italy Sleat et al., 1999 10330339
Pa-cln2.064 IGF056/87_Sleat_1999 cln2.017 p.(Ser324Argfs*2)) late infantile 3 CV Italy Sleat et al., 1999 10330339
Pa-cln2.065 GUS23717_Sleat_1999 cln2.018 p.(Glu343Lys) late infantile 3.5 CV England Sleat et al., 1999 10330339
Pa-cln2.065 GUS23717_Sleat_1999 cln2.018 p.(Glu343Lys) late infantile 3.5 CV England Sleat et al., 1999 10330339
Pa-cln2.066 WG308_Sleat_1999 cln2.002 p.(Cys365Arg) late infantile NA NA NA Sleat et al., 1999 10330339
Pa-cln2.066 WG308_Sleat_1999 cln2.026 p.(Gln534Profs*74) late infantile NA NA NA Sleat et al., 1999 10330339
Pa-cln2.067 WG305_Sleat_1999 cln2.003 p.(Cys365Tyr) late infantile NA NA NA Sleat et al., 1999 10330339
Pa-cln2.067 WG305_Sleat_1999 cln2.003 p.(Cys365Tyr) late infantile NA NA NA Sleat et al., 1999 10330339
Pa-cln2.068 DNP2_Sleat_1999 cln2.023 p.(Ala454Glu) late infantile NA NA NA Sleat et al., 1999 10330339
Pa-cln2.068 DNP2_Sleat_1999 cln2.003 p.(Cys365Tyr) late infantile NA NA NA Sleat et al., 1999 10330339
Pa-cln2.069 C9538_Sleat_1999 cln2.022 p.(Gln422His late infantile 2.5 CV Spain Sleat et al., 1999 10330339
Pa-cln2.069 C9538_Sleat_1999 cln2.022 p.(Gln422His late infantile 2.5 CV Spain Sleat et al., 1999 10330339
Pa-cln2.070 BD00284_Sleat_1999 cln2.027 p.(Leu560Thrfs*47) late infantile 3 CV Romania / Canada Sleat et al., 1999 10330339
Pa-cln2.070 BD00284_Sleat_1999 cln2.027 p.(Leu560Thrfs*47) late infantile 3 CV Romania / Canada Sleat et al., 1999 10330339
Pa-cln2.071 KEW4_Sleat_1999 NA not identified late infantile 0.8 CV / GROD Hispanic Sleat et al., 1999 10330339 TPP1 level low!
Pa-cln2.071 KEW4_Sleat_1999 NA not identified late infantile 0.8 CV / GROD Hispanic Sleat et al., 1999 10330339 TPP1 level low!
Pa-cln2.072 GUS16766_Sleat_1999 NA not identified late infantile NA NA Middle East Sleat et al., 1999 10330339 TPP1 level low!
Pa-cln2.072 GUS16766_Sleat_1999 NA not identified late infantile NA NA Middle East Sleat et al., 1999 10330339 TPP1 level low!
Pa-cln2.073 1107_Harikainen_1999 cln2.007 c.509-1G>A late infantile 3.5 CV / FP UK / Ireland  Hartikainen et al., 1999 10356316
Pa-cln2.073 1107_Harikainen_1999 cln2.004 c.509-1G>C late infantile 3.5 CV / FP UK / Ireland  Hartikainen et al., 1999 10356316
Pa-cln2.074 1077_Harikainen_1999 cln2.007 c.509-1G>A juvenile 7 CV / FP Lebanon Hartikainen et al., 1999 10356316
Pa-cln2.074 1077_Harikainen_1999 cln2.122 uncharacterised 5' rearrangement resulting in insertion of intron sequences and frameshift juvenile 7 CV / FP Lebanon Hartikainen et al., 1999 10356316
Pa-cln2.075 1_Zhong_2000 cln2.001 p.(Arg208*) late infantile 2-2.5 CV USA Zhong et al., 2000 11339651
Pa-cln2.075 1_Zhong_2000 cln2.057 p.(Gly473Arg) late infantile 2-2.5 CV USA Zhong et al., 2000 11339651
Pa-cln2.076 2_Zhong_2000 cln2.104 c.381-2A>G late infantile 3 CV USA Zhong et al., 2000 11339651
Pa-cln2.076 2_Zhong_2000 cln2.001 p.(Arg208*) late infantile 3 CV USA Zhong et al., 2000 11339651
Pa-cln2.077 3_Zhong_2000 cln2.004 c.509-1G>C late infantile 4 CV USA Zhong et al., 2000 11339651
Pa-cln2.077 3_Zhong_2000 cln2.056 p.(Trp460*) late infantile 4 CV USA Zhong et al., 2000 11339651
Pa-cln2.078 4_Zhong_2000 cln2.004 c.509-1G>C late infantile 3 CV USA Zhong et al., 2000 11339651 not p.Ala555Pro as originally published
Pa-cln2.078 4_Zhong_2000 cln2.058 p.(Pro544Ser) late infantile 3 CV USA Zhong et al., 2000 11339651 not p.Ala555Pro as originally published
Pa-cln2.079 5_Zhong_2000 cln2.004 c.509-1G>C late infantile 2-2.5 NA USA Zhong et al., 2000 11339651
Pa-cln2.079 5_Zhong_2000 cln2.054 p.(Gly284Val) late infantile 2-2.5 NA USA Zhong et al., 2000 11339651
Pa-cln2.080 6_Zhong_2000 cln2.004 c.509-1G>C late infantile 2 CV USA Zhong et al., 2000 11339651
Pa-cln2.080 6_Zhong_2000 cln2.051 p.(Leu120Serfs*18) late infantile 2 CV USA Zhong et al., 2000 11339651
Pa-cln2.081 7_Zhong_2000 cln2.004 c.509-1G>C late infantile 4 CV / FP / GROD USA Zhong et al., 2000 11339651
Pa-cln2.081 7_Zhong_2000 cln2.052 p.(Arg127Gln) late infantile 4 CV / FP / GROD USA Zhong et al., 2000 11339651
Pa-cln2.082 1_Simonati_2000 cln2.001 p.(Arg208*) late infantile 0.33 CV Italy Simonati et al., 2000 11071145
Pa-cln2.082 1_Simonati_2000 cln2.001 p.(Arg208*) late infantile 0.33 CV Italy Simonati et al., 2000 11071145
Pa-cln2.083 1_Berry-Kravis_2000 cln2.004 c.509-1G>C late infantile 3.5 CV Europe / USA Native American Berry-Kravis et al., 2000 10665500
Pa-cln2.083 1_Berry-Kravis_2000 cln2.001 p.(Arg208*) late infantile 3.5 CV Europe / USA Native American Berry-Kravis et al., 2000 10665500
Pa-cln2.084 2_Berry-Kravis_2000 cln2.041 p.(Arg206Cys) late infantile 3 CV Turkey Berry-Kravis et al., 2000 10665500
Pa-cln2.084 2_Berry-Kravis_2000 cln2.041 p.(Arg206Cys) late infantile 3 CV Turkey Berry-Kravis et al., 2000 10665500
Pa-cln2.085 1_Tessa_2000 cln2.045 p.(Gln509*) cln2.033 late infantile 3.5 CV Italy Tessa et al., 2000 10862088
Pa-cln2.085 1_Tessa_2000 cln2.045 p.(Gln509*) cln2.033 late infantile 3.5 CV Italy Tessa et al., 2000 10862088
Pa-cln2.086 REL01 2_Tessa_2000 cln2.001 p.(Arg208*) rs147191379 late infantile 3 CV / FP Italy Tessa et al., 2000 10862088 sibs
Pa-cln2.086 REL01 2_Tessa_2000 cln2.045 p.(Gln509*) rs147191379 late infantile 3 CV / FP Italy Tessa et al., 2000 10862088 sibs
Pa-cln2.087 REL01 3_Tessa_2000 cln2.001 p.(Arg208*) late infantile 3.5 CV / FP Italy Tessa et al., 2000 10862088 sibs
Pa-cln2.087 REL01 3_Tessa_2000 cln2.045 p.(Gln509*) late infantile 3.5 CV / FP Italy Tessa et al., 2000 10862088 sibs
Pa-cln2.088 1_Lam_2001 cln2.057 p.(Gly473Arg) late infantile 2 CV China Lam et al., 2001 11241479
Pa-cln2.088 1_Lam_2001 cln2.059 p.(Ser62Glyfs*25) late infantile 2 CV China Lam et al., 2001 11241479
Pa-cln2.089 1_Steinfeld_2002 cln2.004 c.509-1G>C rs764922748 late infantile NA CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.089 1_Steinfeld_2002 cln2.001 p.(Arg208*) rs764922748 late infantile NA CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.090 2_Steinfeld_2002 cln2.001 p.(Arg208*) rs764922748 late infantile NA CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.090 2_Steinfeld_2002 cln2.001 p.(Arg208*) rs764922748 late infantile NA CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.091 3_Steinfeld_2002 cln2.001 p.(Arg208*) rs764922748 late infantile NA CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.091 3_Steinfeld_2002 cln2.001 p.(Arg208*) rs764922748 late infantile NA CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.092 4_Steinfeld_2002 cln2.001 p.(Arg208*) rs764922748 late infantile NA CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.092 4_Steinfeld_2002 cln2.001 p.(Arg208*) rs764922748 late infantile NA CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.093 5_Steinfeld_2002 cln2.004 c.509-1G>C rs764922748 late infantile NA CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.093 5_Steinfeld_2002 cln2.004 c.509-1G>C rs764922748 late infantile NA CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.094 6_Steinfeld_2002 cln2.001 p.(Arg208*) rs764922748 late infantile NA CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.094 6_Steinfeld_2002 cln2.001 p.(Arg208*) rs764922748 late infantile NA CV Germany Steinfeld et al., 2002 12376936
Pa-cln2.095