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 81
No. families 72
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 Phenotype Progression Age at onset Histology Country of origin Country of residence 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 7y condensed FP Turkey Ranta et al., 2004 15024724
Pa-cln8.024 2II1_Ranta_2004 or 21_Topcu_2004 p.(Trp263Cys) p.(Trp263Cys) late infantile 7y condensed FP Turkey Ranta et al., 2004 15024724
Pa-cln8.025 3II1_Ranta_2004 or 19_Topcu_2004 p.(Trp263Cys) p.(Trp263Cys) late infantile 8y condensed FP Turkey Ranta et al., 2004 15024724
Pa-cln8.026 4II1_Ranra_2004 or 30_Topcu_2004 p.(Arg204Cys) p.(Arg204Cys) late infantile 4y 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 7y 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 4y 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 3y9mo CL/FP Turkey Ranta et al., 2004 15024724 11589000
Pa-cln8.030 404II2_Mitchell_2001; UCL404 p.(Arg204Cys) p.(Arg204Cys) late infantile 2y6mo CL/FP Turkey Ranta et al., 2004 15024724 11589000
Pa-cln8.031 360II1_Mitchell_2001; UCL360 p.[Leu16Met;Thr170Met] p.[Leu16Met;Thr170Met]     late infantile   3y 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   3y4mo CL/FP Turkey   Ranta et al., 2004 15024724 11589000; Siblings
Pa-cln8.033 439II3_Mitchell_2001; UCL439 p.(Ala30LeufsX20) p.(Ala30LeufsX20) late infantile 3y CL/FP Turkey Ranta et al., 2004 15024724 11589000
Pa-cln8.040 N3003_Kousi_2009 p.(His157Arg) p.(His157Arg) late infantile 3y NCL inclusions Turkey Kousi et al., 2009 19201763
Pa-cln8.045 N4503_Kousi_2011_novel p.(Gly237Arg) p.(Gly237Arg) late infantile 4y Turkey Kousi et al., 2009 19201763
Pa-cln8.035 1_Cannelli_2006 p.(Ile23SerfsX5) p.(Gln194Arg) late infantile 4y CL/FP Italy Cannelli et al., 2006 16570191
Pa-cln8.036 2_Cannelli_2006 p.(Ile23SerfsX5) p.(Tyr158Cys) late infantile 3.5y CL/FP Italy Cannelli et al., 2006 16570191
Pa-cln8.037 3_Cannelli_2006 p.(Ala30Pro) p.(Ala30Pro) late infantile 6y CV / FP / GROD-like Italy Cannelli et al., 2006 16570191
Pa-cln8.039 1_Vantaggiato_2009 p.(Lys61del) p.(Lys61del) late infantile 2.5y CL/FP Italy Vantaggiato et al., 2009 19431184 Maternal Uniparental Disomy
Pa-cln8.041 1_Reinhardt_2010 p.(Arg204Leu) p.(Arg204Leu) late infantile rapid 3.5y CL Germany Reinhardt et al., 2010 19807737
Pa-cln8.042 2_Reinhardt_2010 p.(Gly237Arg) p.(Gly237Arg) late infantile rapid 4y CL / GROD-like Pakistan Reinhardt et al., 2010 19807737
Pa-cln8.043 3_Reinhardt_2010 p.(Ala182AspfsX49) p.(Ala182AspfsX49)     late infantile   2.5y CL/FP Turkey   Reinhardt et al., 2010 19807737 Siblings
Pa-cln8.044 4_Reinhardt_2010 p.(Ala182AspfsX49) p.(Ala182AspfsX49)     late infantile   2.5y CL/FP Turkey   Reinhardt et al., 2010 19807737 Siblings
Pa-cln8.038 1_Zelnik_2007, 1_Mahajnah_2012 p.(Gln256Glu) p.(Gln256Glu)     late infantile   5y 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 4y 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 6y 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 1y New Zealand Kousi et al., 2011 21990111
Pa-cln8.053 N3203_Kousi_2011_novel p.(Gln76Arg) p.(Trp213del) late infantile 4y lamellar includsions Turkey Kousi et al., 2011 21990111
Pa-cln8.054 N7103_Kousi_2011_novel p.(Ile107Ser) p.(Ile107Ser) CLN2: p.Gly501AlafsX18 (het) Turkey Kousi et al., 2011 21990111
Pa-cln8.055 N4003_Kousi_2011_novel p.(Asn125Ser) Turkey Kousi et al., 2011 21990111
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 4y 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) not identified 2y Turkey Kousi et al., 2011 21990111
Pa-cln8.063 N15304_Kousi_2011_novel p.(Gly237Arg) p.(Gly237Arg) late infantile 2y6mo 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.(Leu188ValfsX58) 8p23.3 terminal  del late infantile 4y 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 3.5y 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 18m 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   10y   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 8y 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 8y 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 8y 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   8y   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 6y Norway I. Helland (pers comm) Presented with seizure; cognitive function decline; behavioural problems
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