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 7
No. of sequence variations 0
Total No. of changes 10
Additional notes
Identifier Location Nucleotide change Amino acid change Type of mutation Predicted functional effect Phenotype Histology No. of families  Country of origin PMID Reference Patients Notes
cln14.002 C: Exon 2 c.295C>T  p.Arg99∗ Nonsense Infantile PME n.a. 1 Morocco 17455289 Van Bogaert et al 2007 Pa-cln14.003-005  
cln14.003 D: Exon 3 c.280C>T  p.Arg94Trp Missense benign? Infantile PME n.a. 1 Turkey 22606975 Krabichler et al 2012 Pa-cln14.006
cln14.003 c.280C>T p.Arg94Trp Missense Infantile PME 1 Turkey 22693283 Kousi et al 2102 Pa-cln14.008
cln14.001 E: Exon 4 c.550C>T p.Arg184Cys Missense probably damaging Infantile NCL GROD, FPP 1 Mexico 22748208 Staropoli et al, 2012 Pa-cln14.001-002
cln14.004 C>T p.Arg84Trp Missense 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 Missense benign Infantile PME 1 Turkey 22693283 Kousi et al 2102 Pa-cln14.009
cln14.007 c.818A>T p.Asn273Ile Missense damaging Infantile PME 2 Turkey 22693283 Kousi et al 2102 Pa-cln14.009, 011
cln14.008 c.594delC pIle199Serfs*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 Missense damaging Infantile PME 1 Pakistan 22693283 Kousi et al 2102 Pa-cln14.015-16
Notes
Recommended Mutation nomenclature followed (http://www.hgvs.org/rec.html)
Polyphen and/or SIFT used to predict functional effects
C - around birth,I -  infantile (6-18 mo), LI - late infantile (2-4 yr), vLI - variant late infantile, J - juvenile (5-10 yr), A - adult 
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
Mutations in KCTD7 also cause progressive myoclonic epilepsy in 2 families