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 2
No. patients with opsoclonus-myoclonus ataxia-like syndrome 1
No. patients infantile PME 17
Total No. patients 20
No. families with NCL 1
No. families with opsoclonus-myoclonus ataxia-like syndrome 1
No. families with infantile PME 12
Total No. families 14
Additional notes
DB Patient ID Other Patient ID Allele 1 Allele 2 Changes in the same gene Changes in other genes Phenotype Age of onset Histology Country of origin Country of residence Reference PMID Notes
Pa-cln14.001 1_IV-1_Staropoli 2012 p.Arg184Cys p.Arg184Cys     Infantile NCL 9 mo n.a. Mexico USA Staropoli et al, 2012 22748208 sibs
Pa-cln14.002 1_IV-2_Staropoli 2012 p.Arg184Cys p.Arg184Cys     Infantile NCL 8 mo GROD, FPP Mexico USA Staropoli et al, 2012 22748208  
Pa-cln14.003 1-1_Van Bogaert 2007 p.Arg99∗ p.Arg99∗     Infantile PMEwith ataxia 18 mo None found Morocco Belgium Van Bogaert et al 2007 17455289 sibs
Pa-cln14.004 1-2_VanBogaert_2007 p.Arg99∗ p.Arg99∗ Infantile PMEwith ataxia 24 mo n.a. Morocco Belgium Van Bogaert et al 2007 17455289  
Pa-cln14.005 1-3_VanBogaert_2007 p.Arg99∗ p.Arg99∗     Infantile PMEwith ataxia 16 mo None found Morocco Belgium Van Bogaert et al 2007 17455289  
Pa-cln14.006 09D1352_Krabichler_2012 p.Arg94Trp p.Arg94Trp Infantile PME 10 mo 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 5-10 mo Not done Israel Israel Blumkin et al 2012 22638565
Pa-cln14.008 L3_Kousi_2012 p.Arg94Trp p.Arg94Trp Infantile PME 1-2 y None found Turkey Turkey Kousi et al 2012 22693283
Pa-cln14.009 N2703_Kousi_2012 p.Asp115Tyr p.Asn273Ile Infantile PME 1-2 y None found Turkey Turkey Kousi et al 2012 22693283
Pa-cln14.010 N3503_Kousi_2012 pIle199Serfs*74 pIle199Serfs*74 Infantile PME 6-12 mo Not done Turkey Turkey Kousi et al 2012 22693283
Pa-cln14.011 N4103_Kousi_2012 p.Asn273Ile p.Asn273Ile Infantile PME 1-2 y Not done Turkey Turkey Kousi et al 2102 22693283
Pa-cln14.012 N12604_Kousi_2012 p.Trp289* p.Trp289* Infantile PME >2 y Not done Turkey Turkey Kousi et al 2012 22693283
Pa-cln14.013 12606_Kousi_2012 p.Trp289* p.Trp289* Infantile PME 1-2 y Not done Turkey Turkey Kousi et al 2012 22693283
Pa-cln14.014 N15103_Kousi_2012 pIle199Serfs*74 pIle199Serfs*74 Infantile PME 1-2 y None found Turkey Turkey Kousi et al 2012 22693283
Pa-cln14.015 Pak4_Kousi_2012 p.Leu108Met p.Leu108Met     Infantile PME 1-2 y Not done Pakistan   Kousi et al 2012 22693283 sibs
Pa-cln14.016 Pak5_Kousi_2012 p.Leu108Met p.Leu108Met Infantile PME 1-2 y Not done Pakistan Kousi et al 2012 22693283  
Pa-cln14.017 II_6_Farhan_2014 p.Tyr276Cys p.Tyr276Cys     Infantile PME with ataxia 1-2 y Not done Mennonite Canada Farhan et al, 2014 Epilepsia 25060828 sibs
Pa-cln14.018 II_7_Farhan_2014 p.Tyr276Cys p.Tyr276Cys Infantile PME with ataxia 2-3 y Not done Mennonite Canada Farhan et al, 2014 Epilepsia 25060828  
Pa-cln14.019 II_8_Farhan_2014 p.Tyr276Cys p.Tyr276Cys     Infantile PME with ataxia 1-2 y Not done Mennonite Canada Farhan et al, 2014 Epilepsia 25060828  
Pa-cln14.020 Pa-cln14.020 p.Arg112His p.Trp235Ser PME 3 y USA pers comm de Los Reyes
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