Summary of New Classification

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SUMMARY OF NEW CLASSIFICATION NOMENCLATURE OF THE NCLS Gene Disease Name Also Known As Gene Product (Protein) Protein Description CLN1 disease, infantile CLN1 disease, late infantile Palmitoyl protein thioesterase 1, CLN1 Infantile soluble lysosomal enzyme deficiency CLN1 disease, juvenile PPT1 CLN1 disease, adult CLN2 disease, late infantile CLN2 Late‐Infantile Tripeptidyl peptidase 1, TPP1 soluble lysosomal enzyme deficiency CLN2 disease, juvenile CLN3 CLN3 disease Juvenile CLN3 transmembrane protein transmembrane protein Adult autosomal dominant Batten CLN4/DNAJC5 CLN4 disease Kuf's disease Cysteine string proteinα secretory vesicle protein Ceroid Lipofuscinosis Parry type CLN5 disease, late infantile Ceroid‐lipofuscinosis neuronal CLN5 CLN5 disease, juvenile Finnish variant late‐infantile soluble lysosomal enzyme deficiency protein 5 CLN5 disease, adult CLN6 disease, late infantile Early juvenile variant or late‐ Ceroid‐lipofuscinosis neuronal transmembrane protein, endoplasmic CLN6 CLN6 disease, juvenile infantile variant protein 6 reticulum CLN6 disease, adult Major facilitator superfamily transmembrane protein, CLN7 CLN7 disease, late infantile Late‐infantile variant domain‐containing protein 8 endolysosomal transporter Late‐infantile variant unknown transmembrane transmembrane protein, endoplasmic CLN8 CLN8 disease, late infantile EPMR (progressive epilepsy with protein, ER, ER‐Golgi reticulum , ER‐Golgi intermediate mental retardation) intermediate complex complex CLN10 disease, congenital Congenital classic CLN10 disease, late infantile CLN10/CTSD Late‐infantile Cathepsin D soluble lysosomal enzyme deficiency CLN10 disease, juvenile Adult CLN10 disease, adult Adult (heterozygous mutations non enzyme; function of protein CLN11/GRN CLN11 disease, adult cause frontotemporal lobar Progranulin poorly understood dementia) CLN12 disease non enzyme; function of protein CLN12/ATP13A2 CLN12 disease, juvenile Juvenile (mutations also cause P‐type ATPase poorly understood Kufor‐Rakeb syndrome) CLN13 CLN13 disease, adult Adult Kufs type B Cathepsin F soluble lysosomal enzyme deficiency Potassium channel probable transmembrane protein CLN14/KCTD7 CLN14 disease, infantile CLN14 disease, infantile tetramerization domain‐ voltage‐gated potassium channel containing protein 7 complex .

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Supplementary File 1 (PDF, 225 Kib)
("autophagy"[MeSH Terms] OR "autophagy"[All Fields] OR "lysosomes"[MeSH Terms] OR "lysosomes"[All Fields] OR (lysosomal[All Fields] AND ("enzymes"[MeSH Terms] OR "enzymes"[All Fields] OR "enzyme"[All Fields])) OR "mitochondrial degradation"[MeSH Terms] OR ("mitochondrial"[All Fields] AND "degradation"[All Fields]) OR "mitochondrial degradation"[All Fields] OR "mitophagy"[All Fields] OR (AGA[All Fields] OR ("aspartylglucosylaminase"[MeSH Terms] OR "aspartylglucosylaminase"[All Fields] OR "aspartylglucosaminidase"[All Fields])) OR (ARSA[All Fields] OR ("arylsulphatase a"[All Fields] OR "cerebroside-sulfatase"[MeSH Terms] OR "cerebroside-sulfatase"[All Fields] OR "arylsulfatase a"[All Fields])) OR (ARSB[All Fields] OR ("arylsulphatase b"[All Fields] OR "n- acetylgalactosamine-4-sulfatase"[MeSH Terms] OR "n-acetylgalactosamine-4-sulfatase"[All Fields] OR "arylsulfatase b"[All Fields])) OR (ASAH1[All Fields] OR ("ceramidases"[MeSH Terms] OR "ceramidases"[All Fields] OR "n acylsphingosine amidohydrolase"[All Fields])) OR ATP13A2[All Fields] OR CLN3[All Fields] OR CLN5[All Fields] OR CLN6[All Fields] OR CLN8[All Fields] OR (CTNS[All Fields] OR cystinosin[All Fields]) OR (CTSA[All Fields] OR "cathepsin a"[MeSH Terms] OR "cathepsin a"[All Fields]) OR (CTSD[All Fields] OR "cathepsin d"[MeSH Terms] OR "cathepsin d"[All Fields]) OR (CTSF[All Fields] OR "cathepsin f"[MeSH Terms] OR "cathepsin f"[All Fields]) OR (CTSF[All Fields] OR "cathepsin f"[MeSH Terms] OR "cathepsin f"[All Fields]) OR DNAJC5[All Fields] OR (FUCA1[All Fields] OR (("alpha-l-fucosidase"[MeSH
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