Neuronal Ceroid Lipofuscinosis(Batten disease) Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive mode(s) within the Metabolic disorders/Lysosomal storage disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive mode(s) within the Metabolic disorders/Lysosomal storage disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | MFSD8/256471 | major facilitator superfamily domain containing 8 | 4q28.2 | Chr4, NC_000004.12 (127917732..127965963, complement) |
48232 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | CLN5/1203 | CLN5 intracellular trafficking protein | 13q22.3 | Chr13, NC_000013.11 (76992081..77005117) |
13037 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | TPP1/1200 | tripeptidyl peptidase 1 | 11p15.4 | Chr11, NC_000011.10 (6612768..6619422, complement) |
6655 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | CLN8/2055 | CLN8 transmembrane ER and ERGIC protein | 8p23.3 | Chr8, NC_000008.11 (1753059..1786570) |
33512 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | CLN3/1201 | CLN3 lysosomal/endosomal transmembrane protein, battenin | 16p12.1 | Chr16, NC_000016.10 (28466653..28492082, complement) |
25430 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | PPT1/5538 | palmitoyl-protein thioesterase 1 | 1p34.2 | Chr1, NC_000001.11 (40071461..40097252, complement) |
25792 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | CTSD/1509 | cathepsin D | 11p15.5 | Chr11, NC_000011.10 (1752755..1763927, complement) |
11173 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | CTSF/8722 | cathepsin F | 11q13.2 | Chr11, NC_000011.10 (66563464..66568606, complement) |
5143 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | CLN6/54982 | CLN6 transmembrane ER protein | 15q23 | Chr15, NC_000015.10 (68206992..68257215, complement) |
50224 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | GRN/2896 | granulin precursor | 17q21.31 | Chr17, NC_000017.11 (44345302..44353106) |
7805 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | DNAJC5/80331 | DnaJ heat shock protein family (Hsp40) member C5 | 20q13.33 | Chr20, NC_000020.11 (63895126..63936011) |
40886 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 12 | KCTD7/154881 | potassium channel tetramerization domain containing 7 | 7q11.21 | Chr7, NC_000007.14 (66628881..66643229) |
14349 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |