Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
0.350 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
0.350 Biomarker disease GENOMICS_ENGLAND Whereas KCTD7 mutations have previously been linked to PME without lysosomal storage, this study clearly demonstrates that KCTD7 mutations also cause a rare, infantile-onset NCL subtype designated as CLN14. 22748208 2012
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
0.350 Biomarker disease BEFREE Whereas KCTD7 mutations have previously been linked to PME without lysosomal storage, this study clearly demonstrates that KCTD7 mutations also cause a rare, infantile-onset NCL subtype designated as CLN14. 22748208 2012
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
0.350 GeneticVariation disease BEFREE The NCLs are clinically and genetically heterogeneous and more than 14 genetically distinct NCL subtypes have been described to date (CLN1-CLN14) (Haltia and Goebel, 2012 [1]). 23274885 2013
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
0.350 GeneticVariation disease BEFREE Fourteen distinct NCL subtypes (CLN1-CLN14) are known, and they are caused by mutations in different genes. 26443629 2016
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
0.350 GeneticVariation disease BEFREE Biallelic KCTD7 mutations define a neurodegenerative disorder with lipofuscin and lipid droplet accumulation but without defining features of neuronal ceroid lipofuscinosis or lysosomal storage disorders. 30295347 2018
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
0.350 GeneticVariation disease BEFREE The two reported patients carrying novel pathogenic variants in KCTD7 gene presented with a remarkable phenotypic heterogeneity including: a) progressive myoclonus epilepsy without NCL-type lysosomal storages; b) progressive myoclonus epilepsy with lysosomal storages resembling NCL pattern (NCL14); c) progressive myoclonus epilepsy with epilepsia partialis continua. 30500434 2019