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. of mutations causing NCL 1
No. of mutations causing opsoclonus-myoclonus ataxia-like syndrome 2
No. of mutations causing infantile PME 10
No. of sequence variations 0
Total No. of changes 13
Additional notes
Identifier Location Nucleotide change Amino acid change Type of mutation Predicted functional effect NCL Phenotype or other disease Histology No. of families  Country of origin PMID Reference Patients Notes
cln14.002 C: Exon 2 c.295C>T  p.(Arg99_) Substitution Infantile PME with ataxia n.a. 1 Morocco 17455289 Van Bogaert et al 2007 Pa-cln14.003-005; Pa-cln14.022 
cln14.003 D: Exon 3 c.280C>T  p.(Arg94Trp) Substitution benign? Infantile PME n.a. 1 Turkey 22606975 Krabichler et al 2012 Pa-cln14.006
cln14.003 c.280C>T p.(Arg94Trp) Substitution Infantile PME 1 Turkey 22693283 Kousi et al 2102 Pa-cln14.008
cln14.001 E: Exon 4 c.550C>T p.(Arg184Cys) Substitution probably damaging infantile GROD, FPP 1 Mexico 22748208 Staropoli et al, 2012 Pa-cln14.001-002
cln14.004 C>T p.(Arg84Trp) Substitution damaging opsoclonus-myoclonus ataxia-like syndrome 1 Israel 22638565 Blumkin et al 2012 Pa-cln14.007
cln14.005 deletion exons 3 and 4 Deletion opsoclonus-myoclonus ataxia-like syndrome 1 Israel 22638565 Blumkin et al 2012 Pa-cln14.007
cln14.006 c.343G>T p.(Asp115Tyr) Substitution benign Infantile PME 1 Turkey 22693283 Kousi et al 2102 Pa-cln14.009
cln14.007 c.818A>T p.(Asn273Ile) Substitution damaging Infantile PME 2 Turkey 22693283 Kousi et al 2102 Pa-cln14.009, 011
cln14.008 c.594delC p.(Ile199Serfs*74) Deletion Infantile PME 2 Turkey 22693283 Kousi et al 2102 Pa-cln14.010, .014
cln14.009 c.861_863delATG p.(Trp289*) Deletion Infantile PME 1 Turkey 22693283 Kousi et al 2102 Pa-cln14.013
cln14.010 c.322C>A p.(Leu108Met) Substitution damaging Infantile PME 1 Pakistan 22693283 Kousi et al 2102 Pa-cln14.015-16
cln14.011 c.827A>G p.(Tyr276Cys) Substitution Infantile PME with ataxia 1 Mennonite 25060828 Farhan et al, 2014 Epilepsia Pa-cln14.017-019
cln14.012 c.335G>A p.(Arg112His) Substitution PME 1 USA pers comm de Los Reyes Pa-cln14.020
cln14.013 c.704G>C p.(Trp235Ser) Substitution PME 1 USA pers comm de Los Reyes Pa-cln14.020
cln14.014 C: Exon 2 c.190A>G p.(Thr64Ala) Substitution late infantile 1 UK poster Ong et al  Pa-cln14.021
cln14.015 E: Exon 4 c.631C>T p.(Arg211*)  Substitution late infantile 1 UK poster Ong et al  Pa-cln14.021
Notes
Recommended Mutation nomenclature followed (http://www.hgvs.org/rec.html)
Polyphen and/or SIFT used to predict functional effects
Congenital - around birth; infantile (0.5-1.5 y); late infantile (2-4 y),  juvenile (5-10 y); adult 
PME - progressive myoclonus epilepsy
GROD - Granular osmiophilic deposits, FPP - Fingerprint profile
GROD - Granular osmiophilic deposits, CL - Curvilinear, RL- Rectilinear, FP - Fingerprint, condensed
See dbSNP for more short genetic variations
Last updated 04-Dec-17