CLN14 / KCTD7

Mutations cause disease with infantile onset. Metz et al (2018) suggest that disease caused by homozygous KCTD7 mutations does not have the defining features of neuronal ceroid lipofuscinosis

You can read the paper by Metz et al. here 

Metz KA, Teng X, Coppens I, Lamb HM, Wagner BE, Rosenfeld JA, Chen X, Zhang Y, Kim HJ, Meadow ME, Wang TS, Haberlandt ED, Anderson GW, Leshinsky-Silver E, Bi W, Markello TC, Pratt M, Makhseed N, Garnica A, Danylchuk NR, Burrow TA, Jayakar P, McKnight D, Agadi S, Gbedawo H, Stanley C, Alber M, Prehl I, Peariso K, Ong MT, Mordekar SR, Parker MJ, Crooks D, Agrawal PB, Berry GT, Loddenkemper T, Yang Y, Maegawa GHB, Aouacheria A, Markle JG, Wohlschlegel JA, Hartman AL, Hardwick JM. KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect. Ann Neurol. 2018 Nov;84(5):766-780. doi: 10.1002/ana.25351. Epub 2018 Nov 8. PMID: 30295347; PMCID: PMC6295419

mutation table to download  

cln14mutation_dec17.xlsx

cln14mutation_dec17.xlsx

patient table to download  

cln14patient_dec17.xlsx

cln14patient_dec17.xlsx