Gene Symbol CLN3
Gene ID 1201
Chromosomal Location 16p12.1
Genomic RefSeqGene NG_008654.2 32641 bp NM_000086.2 1879 bp
Transcript RefSeq NM_000086.2 1879 bp NP_000077.1 438 aa
Protein RefSeq NP_000077.1 438 aa
No. patients 402
No. families 382
Additional notes
DB Patient ID Other Patient ID Allele 1 nt (aa) Allele 2 nt (aa) Changes in same gene Changes in other genes Phenotype Age at onset Histology Country of origin Country of residence Reference PMID Notes Notes2
Pa-cln3.001 1_The Internation Batten Disease Consortium_1995 or 1_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855 IBDC screened 81 patients, of which 46 were homoz for the 1 kb del, and 24  were het for 1 kb, with 11 not defined genetically.  These data were incoporated into Munroe et al 1997a.
Pa-cln3.002 2_The Internation Batten Disease Consortium_1995 2_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.003 3_The Internation Batten Disease Consortium_1995 or 3_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.004 4_The Internation Batten Disease Consortium_1995 or 4_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.005 5_The Internation Batten Disease Consortium_1995 or 5_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.006 6_The Internation Batten Disease Consortium_1995 or 6_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.007 7_The Internation Batten Disease Consortium_1995 or 7_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.008 8_The Internation Batten Disease Consortium_1995 or 8_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.009 9_The Internation Batten Disease Consortium_1995 or 9_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.010 10_The Internation Batten Disease Consortium_1995 or 10_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.011 11_The Internation Batten Disease Consortium_1995 or 11_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.012 12_The Internation Batten Disease Consortium_1995 or 12_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.013 13_The Internation Batten Disease Consortium_1995 or 13_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.014 14_The Internation Batten Disease Consortium_1995 or 14_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.015 15_The Internation Batten Disease Consortium_1995 or 15_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.016 16_The Internation Batten Disease Consortium_1995 or 16_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.017 17_The Internation Batten Disease Consortium_1995 or 17_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.018 18_The Internation Batten Disease Consortium_1995 or 18_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.019 19_The Internation Batten Disease Consortium_1995 or 19_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.020 20_The Internation Batten Disease Consortium_1995 or 20_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.021 21_The Internation Batten Disease Consortium_1995 or 21_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.022 22_The Internation Batten Disease Consortium_1995 or 22_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.023 23_The Internation Batten Disease Consortium_1995 or 23_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.024 24_The Internation Batten Disease Consortium_1995 or 24_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.025 25_The Internation Batten Disease Consortium_1995 or 25_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.026 26_The Internation Batten Disease Consortium_1995 or 26_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.027 27_The Internation Batten Disease Consortium_1995 or 27_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.028 28_The Internation Batten Disease Consortium_1995 or 28_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.029 29_The Internation Batten Disease Consortium_1995 or 29_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.030 30_The Internation Batten Disease Consortium_1995 or 30_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.031 31_The Internation Batten Disease Consortium_1995  or 31_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.032 32_The Internation Batten Disease Consortium_1995 or 32_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.033 33_The Internation Batten Disease Consortium_1995 or 33_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.034 34_The Internation Batten Disease Consortium_1995 or 34_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.035 35_The Internation Batten Disease Consortium_1995 or 35_Munroe_1998 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.036 36_The Internation Batten Disease Consortium_1995 or 36_Munroe_1999 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.037 37_The Internation Batten Disease Consortium_1995 or 37_Munroe_2000 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.038 38_The Internation Batten Disease Consortium_1995 or 38_Munroe_2001 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.039 39_The Internation Batten Disease Consortium_1995 or 39_Munroe_2002 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.040 40_The Internation Batten Disease Consortium_1995 or 40_Munroe_2003 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.041 41_The Internation Batten Disease Consortium_1995 or 41_Munroe_2002 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.042 42_The Internation Batten Disease Consortium_1995 or 42_Munroe_2002 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.043 43_The Internation Batten Disease Consortium_1995 or 43_Munroe_2002 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.044 44_The Internation Batten Disease Consortium_1995 or 441_Munroe_2002 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.045 45_The Internation Batten Disease Consortium_1995 or 45_Munroe_2002 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.046 46_The Internation Batten Disease Consortium_1995 or 46_Munroe_2002 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. IBDC, 1995 7553855
Pa-cln3.047 47_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.048 48_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.049 49_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.050 50_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.051 51_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.052 52_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.053 53_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.054 54_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.055 55_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.056 56_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.057 57_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.058 58_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.059 59_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.060 60_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.061 61_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.062 62_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.063 63_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.064 64_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.065 65_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.066 66_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.067 67_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.068 68_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.069 69_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.070 70_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.071 71_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.072 72_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.073 73_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.074 74_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.075 75_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.076 76_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.077 77_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.078 78_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.079 79_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.080 80_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.081 81_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.082 82_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.083 83_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.084 84_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.085 85_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.086 86_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.087 87_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.088 88_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.089 89_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.090 90_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.091 91_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.092 92_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.093 93_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.094 94_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.095 95_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.096 96_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.097 97_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.098 98_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.099 99_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.100 100_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.101 101_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.102 102_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.103 103_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.104 104_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.105 105_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.106 106_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.107 107_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.108 108_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.109 109_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.110 110_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.111 111_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.112 112_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.113 113_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.114 114_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.115 115_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.116 116_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.117 117_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.118 118_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.119 119_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.120 120_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.121 121_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.122 122_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.123 123_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.124 124_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.125 125_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.126 126_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.127 127_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.128 128_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.129 129_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.130 130_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.131 131_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.132 132_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.133 133_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.134 134_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.135 135_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.136 136_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.137 137_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.138 138_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.139 139_Munroe_1997 1 kb deletion 1 kb deletion JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.140 L199Pa _The Internation Batten Disease Consortium_1995 or 7_Lauronen_1999 1 kb deletion 2.8 kb deletion, c.791-802_1056+1445del2815 delayed classic JNCL 5.5y FP/CL Finland The International Batten Disease Cosortium, 1995     Munroe et al., 1997                                           Lauronen et al., 1999 7553855, 9311735, 9932957
Pa-cln3.141 L198Pa_The Internation Batten Disease Consortium_1995 or 8_Lauronen et al., 1999 1 kb deletion c.533+1G>C delayed classic JNCL 7y FP/CL Finland The International Batten Disease Cosortium, 1995     Munroe et al., 1997                                           Lauronen et al., 1999 7553855, 9311735, 9932957
Pa-cln3.142 NCL39.3_The Internation Batten Disease Consortium_1995 1 kb deletion 6 kb deletion JNCL n.a. n.a. Morocco IBDC, 1995 7553855
Pa-cln3.143 L39_Munroe_1997 1 kb deletion p.Leu101Pro JNCL n.a. n.a. The Netherlands Munroe et al., 1997a 9311735
Pa-cln3.144 L227_Munroe_1997 1 kb deletion p.Val128fs JNCL n.a. n.a. UK Munroe et al., 1997a 9311735
Pa-cln3.145 L121/BA_Munroe_1997 1 kb deletion c.461-13G>C JNCL n.a. n.a. USA Munroe et al., 1997a 9311735
Pa-cln3.146 L29_Munroe_1997 1 kb deletion p.Ser161X JNCL n.a. n.a. Sweden Munroe et al., 1997a 9311735
Pa-cln3.147 L259_Munroe_1997 1 kb deletion p.Ser162X JNCL n.a. n.a. Denmark Munroe et al., 1997a 9311735
Pa-cln3.148 L46_1_Munroe_1997 1 kb deletion p.Leu170Pro     JNCL n.a. n.a. UK   Munroe et al., 1997a 9311735 Siblings
Pa-cln3.149 L46_2_Munroe_1997 1 kb deletion p.Leu170Pro     JNCL n.a. n.a. UK   Munroe et al., 1997a 9311735  
Pa-cln3.150 L189_Munroe_1997 not identified p.Gln211X JNCL n.a. n.a. Italy Munroe et al., 1997a 9311735
Pa-cln3.151 L285_Munroe_1997                                                                                  or 9_Lauronen_1999 1 kb deletion p.Glu295Lys     Protracted JNCL 6y FP/CL Finland The International Batten Disease Cosortium, 1995               Munroe et al., 1997                                           Lauronen et al., 1999 7553855, 9311735, 9932957
Pa-cln3.152 L243_Munroe_1997 1 kb deletion p.Gln327X JNCL n.a. n.a. Denmark Munroe et al., 1997a 9311735
Pa-cln3.153 L216_Munroe_1997 1 kb deletion p.Val330Phe JNCL n.a. n.a. Norway Munroe et al., 1997a 9311735
Pa-cln3.154 L10_Munroe_1997 1 kb deletion p.Arg334Cys JNCL n.a. n.a. The Netherlands Munroe et al., 1997a 9311735
Pa-cln3.155 165_Munroe_1997 1 kb deletion p.Arg334Cys JNCL n.a. n.a. The Netherlands Munroe et al., 1997a 9311735
Pa-cln3.156 166_Munroe_1997 1 kb deletion p.Arg334Cys JNCL n.a. n.a. The Netherlands Munroe et al., 1997a 9311735
Pa-cln3.157 L204_Munroe_1997 and 10_Lauronen_1999 1 kb deletion p.Arg334His Protracted JNCL 5.5y FP/CL Finland Munroe et al., 1997a 9311735
Pa-cln3.158 168_Munroe_1997 1 kb deletion p.Arg334His JNCL n.a. n.a. UK Munroe et al., 1997a 9311735
Pa-cln3.159 169_Munroe_1997 1 kb deletion p.Arg334His JNCL n.a. n.a. Germany Munroe et al., 1997a 9311735
Pa-cln3.160 170_Munroe_1997 1 kb deletion p.Arg334His JNCL n.a. n.a. USA Munroe et al., 1997a 9311735
Pa-cln3.161 L8_Munroe_1997 1 kb deletion p.Gln352X JNCL n.a. n.a. The Netherlands Munroe et al., 1997a 9311735
Pa-cln3.162 172_Munroe_1997 1 kb deletion p.Gln352X JNCL n.a. n.a. USA Munroe et al., 1997a 9311735
Pa-cln3.163 BB_1_Munroe_1997 1 kb deletion c.1198-1G>T     JNCL 5 y n.a. USA   Munroe et al., 1997a 9311735 Siblings
Pa-cln3.164 BB_2_Munroe_1997 1 kb deletion c.1198-1G>T JNCL 5 y n.a. USA Munroe et al., 1997a 9311735  
Pa-cln3.165 BB_3_Munroe_1997 1 kb deletion c.1198-1G>T     JNCL 5 y n.a. USA   Munroe et al., 1997a 9311735  
Pa-cln3.166 L61_Munroe_1997 1 kb deletion p.Leu425SerfsX87 JNCL n.a. n.a. UK Munroe et al., 1997a 9311735
Pa-cln3.167 L1_Munroe_1997 p.Val142fs p.Val142fs JNCL n.a. n.a. The Netherlands Munroe et al., 1997a 9311735
Pa-cln3.168 182_Munroe_1997 p.Val142fs p.Val142fs JNCL n.a. n.a. The Netherlands Munroe et al., 1997a 9311735
Pa-cln3.169 183_Munroe_1997 p.Val142fs p.Val142fs JNCL n.a. n.a. The Netherlands Munroe et al., 1997a 9311735
Pa-cln3.170 177_Munroe_1997 1 kb deletion p.Val142fs     JNCL n.a. n.a. USA   Munroe et al., 1997a 9311735  
Pa-cln3.171 178_Munroe_1997 1 kb deletion p.Val142fs     JNCL n.a. n.a. USA   Munroe et al., 1997a 9311735  
Pa-cln3.172 L116_Munroe_1997 p.Gly187AspfsX48 p.Gly187AspfsX48 JNCL n.a. n.a. Italy Munroe et al., 1997a 9311735
Pa-cln3.173 L250_Munroe_1997 p.Ala196GlyfsX40 p.Ala196GlyfsX40 JNCL n.a. n.a. UK Munroe et al., 1997a 9311735
Pa-cln3.174 L209_Munroe_1997 p.His315GlnfsX67 p.His315GlnfsX67 JNCL n.a. n.a. Italy Munroe et al., 1997a 9311735
Pa-cln3.175 187_Munroe_1997 p.His315GlnfsX67 p.His315GlnfsX67 JNCL n.a. n.a. Italy Munroe et al., 1997a 9311735
Pa-cln3.176 179_Munroe_1997 1 kb deletion?? p.His315GlnfsX67 JNCL n.a. n.a. Iceland Munroe et al., 1997a 9311735
Pa-cln3.177 180_Munroe_1997 1 kb deletion p.His315GlnfsX67 JNCL n.a. n.a. USA Munroe et al., 1997a 9311735
Pa-cln3.178 140_Munroe_1997 1 kb deletion not identified JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.179 141_Munroe_1997 1 kb deletion not identified JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.180 142_Munroe_1997 1 kb deletion not identified JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.181 143_Munroe_1997 1 kb deletion not identified JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.182 144_Munroe_1997 1 kb deletion not identified JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.183 145_Munroe_1997 1 kb deletion not identified JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.184 146_Munroe_1997 1 kb deletion not identified JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.185 147_Munroe_1997 1 kb deletion not identified JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.186 148_Munroe_1997 1 kb deletion not identified JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.187 149_Munroe_1997 1 kb deletion not identified JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.188 150_Munroe_1997 1 kb deletion not identified JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.189 151_Munroe_1997 1 kb deletion not identified JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.190 L125_Munroe_1997 1 kb deletion not identified p.His404Arg JNCL n.a. n.a. n.a. Munroe et al., 1997a, Eksandh et al., 2000 9311735 9450775
Pa-cln3.191 188_Munroe_1997 not identified not identified JNCL n.a. n.a. n.a. Munroe et al., 1997a 9311735
Pa-cln3.192 1_Lauronen_1999 1 kb deletion 2.8 kb deletion where D16S298 not deleted     delayed classic JNCL 8y FP/CL Finland   The International Batten Disease Consortium, 1995 Lauronen et al., 1999 7553855, 9932957 Siblings
Pa-cln3.193 2_Lauronen_1999 1 kb deletion 2.8 kb deletion where D16S298 not deleted     delayed classic JNCL 6.7y FP/CL Finland   The International Batten Disease Consortium, 1995 Lauronen et al., 1999 7553855, 9932957  
Pa-cln3.194 3_Lauronen_1999 1 kb deletion 2.8 kb deletion where D16S298 not deleted     delayed classic JNCL 5.6y FP/CL Finland   The International Batten Disease Consortium, 1995 Lauronen et al., 1999 7553855, 9932957  
Pa-cln3.195 4_Lauronen_1999 1 kb deletion 2.8 kb deletion where D16S298 not deleted     delayed classic JNCL 5.5y FP/CL Finland   The International Batten Disease Consortium, 1995 Lauronen et al., 1999 7553855, 9932957 Siblings
Pa-cln3.196 5_Lauronen_1999 1 kb deletion 2.8 kb deletion where D16S298 not deleted     delayed classic JNCL 6y FP/CL Finland   The International Batten Disease Consortium, 1995 Lauronen et al., 1999 7553855, 9932957  
Pa-cln3.197 6_Lauronen_1999 1 kb deletion 2.8 kb deletion where D16S298 not deleted     delayed classic JNCL 5y FP/CL Finland   The International Batten Disease Consortium, 1995 Lauronen et al., 1999 7553855, 9932957  
Pa-cln3.198 1_Zhong_1998 1 kb deletion 1 kb deletion JNCL n.a. n.a. USA Zhong et al., 1998b 9490299
Pa-cln3.199 2_Zhong_1998 1 kb deletion 1 kb deletion JNCL n.a. n.a. USA Zhong et al., 1998b 9490299
Pa-cln3.200 3_Zhong_1998 1 kb deletion 1 kb deletion JNCL n.a. n.a. USA Zhong et al., 1998b 9490299
Pa-cln3.201 4_Zhong_1998 1 kb deletion 1 kb deletion JNCL n.a. n.a. USA Zhong et al., 1998b 9490299
Pa-cln3.202 5_Zhong_1998 1 kb deletion 1 kb deletion JNCL n.a. n.a. USA Zhong et al., 1998b 9490299
Pa-cln3.203 6_Zhong_1998 1 kb deletion 1 kb deletion JNCL n.a. n.a. USA Zhong et al., 1998b 9490299
Pa-cln3.204 7_Zhong_1998 1 kb deletion 1 kb deletion JNCL n.a. n.a. USA Zhong et al., 1998b 9490299
Pa-cln3.205 8_Zhong_1998 1 kb deletion 1 kb deletion JNCL n.a. n.a. USA Zhong et al., 1998b 9490299
Pa-cln3.206 9_Zhong_1998 1 kb deletion 1 kb deletion JNCL n.a. n.a. USA Zhong et al., 1998b 9490299
Pa-cln3.207 10_Zhong_1998 1 kb deletion 1 kb deletion JNCL n.a. n.a. USA Zhong et al., 1998b 9490299
Pa-cln3.208 11_Zhong_1998 1 kb deletion 1 kb deletion JNCL n.a. n.a. USA Zhong et al., 1998b 9490299
Pa-cln3.209 12_Zhong_1998 1 kb deletion 1 kb deletion JNCL n.a. n.a. USA Zhong et al., 1998b 9490299
Pa-cln3.210 13_Zhong_1998 1 kb deletion 1 kb deletion JNCL n.a. n.a. USA Zhong et al., 1998b 9490299
Pa-cln3.211 14_Zhong_1998 1 kb deletion 1 kb deletion JNCL n.a. n.a. USA Zhong et al., 1998b 9490299
Pa-cln3.212 15_Zhong_1998 1 kb deletion 1 kb deletion JNCL n.a. n.a. USA Zhong et al., 1998b 9490299
Pa-cln3.213 16_Zhong_1998 1 kb deletion 1 kb deletion JNCL n.a. n.a. USA Zhong et al., 1998b 9490299
Pa-cln3.214 17_Zhong_1998 1 kb deletion 1 kb deletion JNCL n.a. n.a. USA Zhong et al., 1998b 9490299
Pa-cln3.215 18_Zhong_1998 1 kb deletion 1 kb deletion JNCL n.a. n.a. USA Zhong et al., 1998b 9490299
Pa-cln3.216 19_Zhong_1998 1 kb deletion 1 kb deletion JNCL n.a. n.a. USA Zhong et al., 1998b 9490299
Pa-cln3.217 20_Zhong_1998 1 kb deletion 1 kb deletion JNCL n.a. n.a. USA Zhong et al., 1998b 9490299
Pa-cln3.218 21_Zhong_1998 1 kb deletion 1 kb deletion JNCL n.a. n.a. USA