Gene Symbol CLN8
Gene ID 2055
Chromosomal Location 8p23
Genomic RefSeqGene NG_008656.2 37793 bp
Transcript RefSeq NM_018941.3 7185 b
Protein RefSeq NP_061764.2 286 aa
Transcript NM_018941.3
No. patients 82
No. families 73
Additional Notes
DB Patient ID Other Patient ID2 Allele 1 nt (aa) Allele 2 nt (aa) Changes in the same gene Changes in other genes NCL phenotype or other disease Progression Age at onset (y) Histology Country of origin Country of residence Other ethnic information Reference PMID Notes Notes2
Pa-cln8.001 1_Ranta_1999 p.(Arg24Gly) p.(Arg24Gly) EPMR Finland Ranta et al., 1999 10508524 Founder effect
Pa-cln8.002 2_Ranta_1999 p.(Arg24Gly) p.(Arg24Gly) EPMR Finland Ranta et al., 1999 10508524 Founder effect
Pa-cln8.003 3_Ranta_1999 p.(Arg24Gly) p.(Arg24Gly) EPMR Finland Ranta et al., 1999 10508524 Founder effect
Pa-cln8.004 4_Ranta_1999 p.(Arg24Gly) p.(Arg24Gly) EPMR Finland Ranta et al., 1999 10508524 Founder effect
Pa-cln8.005 5_Ranta_1999 p.(Arg24Gly) p.(Arg24Gly) EPMR Finland Ranta et al., 1999 10508524 Founder effect
Pa-cln8.006 6_Ranta_1999 p.(Arg24Gly) p.(Arg24Gly) EPMR Finland Ranta et al., 1999 10508524 Founder effect
Pa-cln8.007 7_Ranta_1999 p.(Arg24Gly) p.(Arg24Gly) EPMR Finland Ranta et al., 1999 10508524 Founder effect
Pa-cln8.008 8_Ranta_1999 p.(Arg24Gly) p.(Arg24Gly) EPMR Finland Ranta et al., 1999 10508524 Founder effect
Pa-cln8.009 9_Ranta_1999 p.(Arg24Gly) p.(Arg24Gly) EPMR Finland Ranta et al., 1999 10508524 Founder effect
Pa-cln8.010 10_Ranta_1999 p.(Arg24Gly) p.(Arg24Gly) EPMR Finland Ranta et al., 1999 10508524 Founder effect
Pa-cln8.011 11_Ranta_1999 p.(Arg24Gly) p.(Arg24Gly) EPMR Finland Ranta et al., 1999 10508524 Founder effect
Pa-cln8.012 12_Ranta_1999 p.(Arg24Gly) p.(Arg24Gly) EPMR Finland Ranta et al., 1999 10508524 Founder effect
Pa-cln8.013 13_Ranta_1999 p.(Arg24Gly) p.(Arg24Gly) EPMR Finland Ranta et al., 1999 10508524 Founder effect
Pa-cln8.014 14_Ranta_1999 p.(Arg24Gly) p.(Arg24Gly) EPMR Finland Ranta et al., 1999 10508524 Founder effect
Pa-cln8.015 15_Ranta_1999 p.(Arg24Gly) p.(Arg24Gly) EPMR Finland Ranta et al., 1999 10508524 Founder effect
Pa-cln8.016 16_Ranta_1999 p.(Arg24Gly) p.(Arg24Gly) EPMR Finland Ranta et al., 1999 10508524 Founder effect
Pa-cln8.017 17_Ranta_1999 p.(Arg24Gly) p.(Arg24Gly) EPMR Finland Ranta et al., 1999 10508524 Founder effect
Pa-cln8.018 18_Ranta_1999 p.(Arg24Gly) p.(Arg24Gly) EPMR Finland Ranta et al., 1999 10508524 Founder effect
Pa-cln8.019 19_Ranta_1999 p.(Arg24Gly) p.(Arg24Gly) EPMR Finland Ranta et al., 1999 10508524 Founder effect
Pa-cln8.020 20_Ranta_1999 p.(Arg24Gly) p.(Arg24Gly) EPMR Finland Ranta et al., 1999 10508524 Founder effect
Pa-cln8.021 21_Ranta_1999 p.(Arg24Gly) p.(Arg24Gly) EPMR Finland Ranta et al., 1999 10508524 Founder effect
Pa-cln8.022 22_Ranta_1999 p.(Arg24Gly) p.(Arg24Gly) EPMR Finland Ranta et al., 1999 10508524 Founder effect
Pa-cln8.023 1II1_Ranta_2004 or 23_Topcu_2004 p.(Trp263Cys) p.(Trp263Cys) late infantile 7 condensed FP Turkey Ranta et al., 2004 15024724
Pa-cln8.024 2II1_Ranta_2004 or 21_Topcu_2004 p.(Trp263Cys) p.(Trp263Cys) late infantile 7 condensed FP Turkey Ranta et al., 2004 15024724
Pa-cln8.025 3II1_Ranta_2004 or 19_Topcu_2004 p.(Trp263Cys) p.(Trp263Cys) late infantile 8 condensed FP Turkey Ranta et al., 2004 15024724
Pa-cln8.026 4II1_Ranra_2004 or 30_Topcu_2004 p.(Arg204Cys) p.(Arg204Cys) late infantile 4 condensed FP, CL/FP Turkey Ranta et al., 2004 15024724
Pa-cln8.027 5II1_Ranta_2004 or 15_Topcu_2004 p.(Arg204Cys) p.(Trp263Cys) late infantile 7 condensed FP, CL/FP Turkey Ranta et al., 2004 15024724
Pa-cln8.028 5II2_Ranta_2004 or 16_Topcu_2004 p.(Arg204Cys) p.(Trp263Cys) late infantile 4 condensed FP Turkey Ranta et al., 2004 15024724
Pa-cln8.034 1_Siintola_2006 p.(Arg24Gly) p.(Gly237Arg) EPMR mild Finland Siintola et al., 2006a 16828266
Pa-cln8.029 377II1_Mitchell_2001; UCL377 p.(Arg204Cys) p.(Arg204Cys) late infantile 3.25 CL/FP Turkey Ranta et al., 2004 15024724 11589000
Pa-cln8.030 404II2_Mitchell_2001; UCL404 p.(Arg204Cys) p.(Arg204Cys) late infantile 2.5 CL/FP Turkey Ranta et al., 2004 15024724 11589000
Pa-cln8.031 360II1_Mitchell_2001; UCL360 p.[Leu16Met;Thr170Met] p.[Leu16Met;Thr170Met]     late infantile   3.5 CL/FP Turkey     Ranta et al., 2004 15024724 11589000; Siblings
Pa-cln8.032 360II3_Mitchell_2001; UCL360 p.[Leu16Met;Thr170Met] p.[Leu16Met;Thr170Met]     late infantile   3.3 CL/FP Turkey     Ranta et al., 2004 15024724 11589000; Siblings
Pa-cln8.033 439II3_Mitchell_2001; UCL439 p.(Ala30Leufs*20) p.(Ala30Leufs*20) late infantile 3 CL/FP Turkey Ranta et al., 2004 15024724 11589000
Pa-cln8.040 N3003_Kousi_2009 p.(His157Arg) p.(His157Arg) late infantile 3 NCL inclusions Turkey Kousi et al., 2009 19201763
Pa-cln8.045 N4503_Kousi_2011_novel p.(Gly237Arg) p.(Gly237Arg) late infantile 4 Turkey Kousi et al., 2009 19201763
Pa-cln8.035 1_Cannelli_2006 p.(Ile23Serfs*5) p.(Gln194Arg) late infantile 4 CL/FP Italy Cannelli et al., 2006 16570191
Pa-cln8.036 2_Cannelli_2006 p.(Ile23Serfs*5) p.(Tyr158Cys) late infantile 3.5 CL/FP Italy Cannelli et al., 2006 16570191
Pa-cln8.037 3_Cannelli_2006 p.(Ala30Pro) p.(Ala30Pro) late infantile 6 CV / FP / GROD-like Italy Cannelli et al., 2006 16570191
Pa-cln8.039 1_Vantaggiato_2009 p.(Lys61del) p.(Lys61del) late infantile 2.5 CL/FP Italy Vantaggiato et al., 2009 19431184 Maternal Uniparental Disomy
Pa-cln8.041 1_Reinhardt_2010 p.(Arg204Leu) p.(Arg204Leu) late infantile rapid 3.5 CL Germany Reinhardt et al., 2010 19807737
Pa-cln8.042 2_Reinhardt_2010 p.(Gly237Arg) p.(Gly237Arg) late infantile rapid 4 CL / GROD-like Pakistan Reinhardt et al., 2010 19807737
Pa-cln8.043 3_Reinhardt_2010 p.(Ala182Aspfs*49) p.(Ala182Aspfs*49)     late infantile   2.5 CL/FP Turkey     Reinhardt et al., 2010 19807737 Siblings
Pa-cln8.044 4_Reinhardt_2010 p.(Ala182Aspfs*49) p.(Ala182Aspfs*49)     late infantile   2.5 CL/FP Turkey     Reinhardt et al., 2010 19807737 Siblings
Pa-cln8.038 1_Zelnik_2007, 1_Mahajnah_2012 p.(Gln256Glu) p.(Gln256Glu)     late infantile   5 FP /CL/ GROD-like Israel     Zelnik et al., 2007 17560505 3 branches of same family
Pa-cln8.069 2_Mahajnah_2012 p.(Gln256Glu) p.(Gln256Glu) late infantile-milder mild 4 N.D. Israel Mahajnah and Zelnik 2012 22964447 3 branches of same family
Pa-cln8.070 3_Mahajnah_2012 p.(Gln256Glu) p.(Gln256Glu)     late infantile-milder mild 6 normal Israel     Mahajnah and Zelnik 2012 22964447 3 branches of same family
Pa-cln8.046 146-20031309_Kousi_2011_novel p.(Pro229Ala) p.(Pro229Ala) late infantile FP Mexico Kousi et al., 2011 21990111 Cismondi personal communication
Pa-cln8.047 10-0216_Kousi_2011_novel p.(Pro229Ala) p.(Pro229Ala) late infantile FP Argentina Kousi et al., 2011 21990111 Cismondi personal communication
Pa-cln8.048 ITA12_Kousi_2011_novel p.(Arg70His) p.(Arg70His) late infantile CL/FP India Kousi et al., 2011 21990111 Santorelli personal communication
Pa-cln8.049 ITA13_Kousi_2011_novel p.(Arg70His) p.(Arg70His) late infantile CL/FP Pakistan Kousi et al., 2011 21990111 Santorelli personal communication
Pa-cln8.050 73397_Kousi_2011_novel p.(Gly237Arg) p.(Gly237Arg) UK Kousi et al., 2011 21990111 Loughlin personal communication
Pa-cln8.051 73966_Kousi_2011_novel p.(Arg204Cys) p.(Arg204Cys) UK Kousi et al., 2011 21990111 Loughlin personal communication
Pa-cln8.052 N6603_Kousi_2011_novel p.(Arg70His) p.(His139Tyr) CLN5: c.320+8C>T late infantile 1 New Zealand Kousi et al., 2011 21990111
Pa-cln8.053 N3203_Kousi_2011_novel p.(Gln76Arg) p.(Trp213del) late infantile 4 lamellar inclusions Turkey Kousi et al., 2011 21990111
Pa-cln8.054 N7103_Kousi_2011_novel p.(Ile107Ser) p.(Ile107Ser) CLN2: p.Gly501Alafs*18 (het) Turkey Kousi et al., 2011 21990111
Pa-cln8.055 N4003_Kousi_2011_novel p.(Asn125Ser) Turkey Kousi et al., 2011 21990111 The second allele is blank in the table in the paper
Pa-cln8.056 p4_Kousi_2011_novel p.(Tyr158Cys) p.(Tyr158Cys) Pakistan Kousi et al., 2011 21990111
Pa-cln8.057 p6_Kousi_2011_novel p.(Tyr158Cys) p.(Tyr158Cys) Pakistan Kousi et al., 2011 21990111
Pa-cln8.058 N7403_Kousi_2011_novel p.(Arg204Cys) p.(Arg204Cys) Turkey Kousi et al., 2011 21990111
Pa-cln8.059 N8203_Kousi_2011_novel p.(Gly221Ser) p.(Gly221Ser) Turkey Kousi et al., 2011 21990111
Pa-cln8.060 N4503_Kousi_2011_novel p.(Gly237Arg) p.(Gly237Arg) late infantile 4 Turkey Kousi et al., 2011 21990111
Pa-cln8.061 n3_Kousi_2011_novel p.(Gly237Arg) p.(Gly237Arg) Turkey Kousi et al., 2011 21990111
Pa-cln8.062 N12403_Kousi_2011_novel p.(Glu269Val) NA 2 Turkey Kousi et al., 2011 21990111
Pa-cln8.063 N15304_Kousi_2011_novel p.(Gly237Arg) p.(Gly237Arg) late infantile 2.5 GRODs/CL Albania Kousi et al., 2011 21990111
Pa-cln8.064 BAL1_Kousi_2011_novel p.(Arg204Cys) p.(Arg204Cys) late infantile UK Kousi et al., 2011 21990111 Ball personal communication
Pa-cln8.065 LUMC003_Kousi_2011_novel p.(Trp263Cys) p.(Trp263Cys) Middle East Kousi et al., 2011 21990111 Losekoot personal communication
Pa-cln8.066 RAY35_Kousi_2011_novel p.(Tyr158Cys) p.(Tyr158Cys)             Canada     Kousi et al., 2011 21990111 Siblings Ray personal communication
Pa-cln8.067 RAY36_Kousi_2011_novel p.(Tyr158Cys) p.(Tyr158Cys)             Canada     Kousi et al., 2011 21990111 Siblings Ray personal communication
Pa-cln8.068 1_Allen_2-12 p.(Leu188Valfs*58) 8p23.3 terminal  del late infantile 4 FP (lymphocytes), CL, RL (skin) Ireland Allen et al 2012 Clin Genet 81:602-4 22220808   apparently homozygous for mutation due to de novo chr 8 deletion
Pa-cln8.071 UCL567_Pa-cln8.071 p.(Tyr158Cys) p.(Tyr158Cys) late infantile 3.5 none Asia UK A. Dobbie, pers comm N.A.
Pa-cln8.072 c.208C>T c.208C>T late infantile Italy A. Simonati, pers comm
Pa-cln8.073 c.763C>T del 8p23.3 235 Kb late infantile UK R. Williams pers comm
Pa-cln8.074 c.728T>C del 54 Kb late infantile UK R. Williams pers comm
Pa-cln8.075 p.(Leu207Arg) p.(Leu207Arg) late infantile 1.5 Japan Katata et al. Brain&Dev (2016) 26443629 Initial presentation speech difficulties; later seizures; ventricular abnormalities, cerebellar atrophy, progressive disease
Pa-cln8.076 V-1 p. (Leu226Pro)  p. (Leu226Pro)      EPMR   10   Turkey Turkey   Sahin et al. Acta Neurol Belg (2017) 27844444 siblings Mild clinical course; generalised tonic-clonic seizures and ataxia; cerebral and cerebellar atrophy
Pa-cln8.077 V-2 p. (Leu226Pro)  p. (Leu226Pro)  EPMR 8 Turkey Turkey Sahin et al. Acta Neurol Belg (2017) 27844444 siblings Mild clinical course; generalised tonic-clonic seizures and ataxia; cerebral and cerebellar atrophy
Pa-cln8.078 V-3 p. (Leu226Pro)  p. (Leu226Pro)  EPMR 8 Turkey Turkey Sahin et al. Acta Neurol Belg (2017) 27844444 siblings Mild clinical course; generalised tonic-clonic seizures and ataxia; cerebral and cerebellar atrophy
Pa-cln8.079 V-4 p. (Leu226Pro)  p. (Leu226Pro)  EPMR 8 Turkey Turkey Sahin et al. Acta Neurol Belg (2017) 27844444 siblings Mild clinical course; generalised tonic-clonic seizures and ataxia; cerebral and cerebellar atrophy
Pa-cln8.080 V-5 p. (Leu226Pro)  p. (Leu226Pro)      EPMR   8   Turkey Turkey   Sahin et al. Acta Neurol Belg (2017) 27844444 siblings Mild clinical course; generalised tonic-clonic seizures and ataxia; cerebral and cerebellar atrophy
Pa-cln8.081 p.(Trp102Cys) p.(His157Arg) juvenile 6 Norway I. Helland (pers comm) Presented with seizure; cognitive function decline; behavioural problems
Pa-cln8.082 g.1719221A>G p.(Asn264Lys) congenital 0 GROD, FP+CL Argentina Argentina Noher de Halac, I. (pers comm) in preparation
Notes
C - around birth, I - infantile (6-18 mo), LI - late infantile (2-4 yr), vLI - varaint 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
EPMR - Northern epilepsy syndrome of progressive epilepsy with mental retardation
NA - not available or not applicable
Last updated 28-Nov-17