Gene Symbol KCTD7
Gene ID 154881
Chromosomal Location 7q11.21
Genomic RefSeqGene NG_028110.1 21349 bp
Transcript RefSeq NM_153033.4 5051 bp
Protein RefSeq NP_694578.1 289 aa
No. patients with NCL 3
No. patients with opsoclonus-myoclonus ataxia-like syndrome 1
No. patients infantile PME 17
Total No. patients 21
No. families with NCL 2
No. families with opsoclonus-myoclonus ataxia-like syndrome 1
No. families with infantile PME 12
Total No. families 15
Additional notes
DB Patient ID Other Patient ID Allele 1 Allele 2 Changes in the same gene Changes in other genes NCL Phenotype or other disease Age of onset (y) Histology Country of origin Country of residence Other information on ethinicity Reference PMID Notes Notes 2
Pa-cln14.001 1_IV-1_Staropoli 2012 p.(Arg184Cys) p.(Arg184Cys) infantile 0.75 n.a. Mexico USA Staropoli et al, 2012 22748208 sibs
Pa-cln14.002 1_IV-2_Staropoli 2012 p.(Arg184Cys) p.(Arg184Cys) Infantile  0.7 GROD, FPP Mexico USA Staropoli et al, 2012 22748208 sibs
Pa-cln14.003 1-1_Van Bogaert 2007 p.(Arg99*) p.(Arg99_) Infantile PME with ataxia 1.5 None found Morocco Belgium Van Bogaert et al 2007 17455289 sibs
Pa-cln14.004 1-2_VanBogaert_2007 p.(Arg99_) p.(Arg99_) Infantile PME with ataxia 2 n.a. Morocco Belgium Van Bogaert et al 2007 17455289 sibs
Pa-cln14.005 1-3_VanBogaert_2007 p.(Arg99_) p.(Arg99_) Infantile PME with ataxia 1.3 None found Morocco Belgium Van Bogaert et al 2007 17455289 sibs
Pa-cln14.006 09D1352_Krabichler_2012 p.(Arg94Trp) p.(Arg94Trp) Infantile PME 0.8 None found Turkey Austria Krabichler et al 2012 22606975
Pa-cln14.007 1_Blumkin_2012 p.(Arg84Trp) deletion exons 3&4 opsoclonus-myoclonus ataxia-like syndrome 0.6 Not done Israel Israel Blumkin et al 2012 22638565
Pa-cln14.008 L3_Kousi_2012 p.(Arg94Trp) p.(Arg94Trp) Infantile PME 1.5 None found Turkey Turkey Kousi et al 2012 22693283
Pa-cln14.009 N2703_Kousi_2012 p.(Asp115Tyr) p.Asn273Ile) Infantile PME 1.5 None found Turkey Turkey Kousi et al 2012 22693283
Pa-cln14.010 N3503_Kousi_2012 p.(Ile199Serfs*74) p.(Ile199Serfs*74) Infantile PME 0.75 Not done Turkey Turkey Kousi et al 2012 22693283
Pa-cln14.011 N4103_Kousi_2012 p.(Asn273Ile) p.(Asn273Ile) Infantile PME 1.5 Not done Turkey Turkey Kousi et al 2102 22693283
Pa-cln14.012 N12604_Kousi_2012 p.(Trp289*) p.(Trp289*) Infantile PME >2  Not done Turkey Turkey Kousi et al 2012 22693283
Pa-cln14.013 12606_Kousi_2012 p.(Trp289*) p.(Trp289*) Infantile PME 1.5 Not done Turkey Turkey Kousi et al 2012 22693283
Pa-cln14.014 N15103_Kousi_2012 p.(Ile199Serfs*74) p.(Ile199Serfs*74) Infantile PME 1.5 None found Turkey Turkey Kousi et al 2012 22693283
Pa-cln14.015 Pak4_Kousi_2012 p.(Leu108Met) p.(Leu108Met) Infantile PME 1.5 Not done Pakistan Kousi et al 2012 22693283 sibs
Pa-cln14.016 Pak5_Kousi_2012 p.(Leu108Met) p.(Leu108Met) Infantile PME 1.5 Not done Pakistan Kousi et al 2012 22693283 sibs
Pa-cln14.017 II_6_Farhan_2014 p.(Tyr276Cys) p.(Tyr276Cys) Infantile PME with ataxia 1.5 Not done Canada Mennonite Farhan et al, 2014 Epilepsia 25060828 sibs
Pa-cln14.018 II_7_Farhan_2014 p.(Tyr276Cys) p.(Tyr276Cys) Infantile PME with ataxia 2.5 Not done Canada Mennonite Farhan et al, 2014 Epilepsia 25060828 sibs
Pa-cln14.019 II_8_Farhan_2014 p.(Tyr276Cys) p.(Tyr276Cys) Infantile PME with ataxia 1.5 Not done Canada Mennonite Farhan et al, 2014 Epilepsia 25060828 sibs
Pa-cln14.020 Pa-cln14.020 p.(Arg112His) p.(Trp235Ser) PME 3 USA pers comm de Los Reyes
Pa-cln14.021 p.(Thr64Ala)  p.(Arg211*)  late infantile 1 UK Ong et al, 2015  poster presentation Eur J. Paed Neurol. extensive neurometabolic investigations were normal have included as family with NCL. Refer to abstract for disease progression.  
Notes
Congenital - around birth; infantile (0.5-1.5 y); late infantile (2-4 y),  juvenile (5-10 y); adult 
GROD - Granular osmiophilic deposits, CL - Curvilinear, RL- Rectilinear, FP - Fingerprint, condensed
PME - progressive myoclonus epilepsy
Last updated 04-Dec-17