Progressive Myoclonic Epilepsy(Progressive myoclonus epilepsy) Explore Disorder's Alias
An Unknown mode(s) within the Neurodegenerative disorders category
Candidate Gene Information
An Unknown mode(s) within the Neurodegenerative 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 | 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 |
| 2 | GOSR2/9570 | golgi SNAP receptor complex member 2 | 17q21.32 | Chr17, NC_000017.11 (46923160..46975890) |
52731 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | PRICKLE2/166336 | prickle planar cell polarity protein 2 | 3p14.1 | Chr3, NC_000003.12 (64092236..64268173, complement) |
175938 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | KCNC1/3746 | potassium voltage-gated channel subfamily C member 1 | 11p15.1 | Chr11, NC_000011.10 (17734781..17783057) |
48277 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | CERS1/10715 | ceramide synthase 1 | 19p13.11 | Chr19, NC_000019.10 (18868545..18896982, complement) |
28438 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | EPM2A/7957 | EPM2A glucan phosphatase, laforin | 6q24.3 | Chr6, NC_000006.12 (145383353..145736023, complement) |
352671 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | LMNB2/84823 | lamin B2 | 19p13.3 | Chr19, NC_000019.10 (2428166..2456959, complement) |
28794 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | SCARB2/950 | scavenger receptor class B member 2 | 4q21.1 | Chr4, NC_000004.12 (76158737..76234532, complement) |
75796 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | CSTB/1476 | cystatin B | 21q22.3 | Chr21, NC_000021.9 (43773950..43776308, complement) |
2359 nt | 3 | 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 |