Episodic Ataxia
An Autosomal dominant mode(s) within the Neuromuscular disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Neuromuscular 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 | CACNB4/785 | calcium voltage-gated channel auxiliary subunit beta 4 | 2q23.3 | Chr2, NC_000002.12 (151832771..152099167, complement) |
266397 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | CACNA1A/773 | calcium voltage-gated channel subunit alpha1 A | 19p13.13 | Chr19, NC_000019.10 (13206442..13506479, complement) |
300038 nt | 49 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | SLC1A3/6507 | solute carrier family 1 member 3 | 5p13.2 | Chr5, NC_000005.10 (36606606..36688334) |
81729 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | KCNA1/3736 | potassium voltage-gated channel subfamily A member 1 | 12p13.32 | Chr12, NC_000012.12 (4909905..4918256) |
8352 nt | 2 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | SCN2A/6326 | sodium voltage-gated channel alpha subunit 2 | 2q24.3 | Chr2, NC_000002.12 (165239414..165392304) |
152891 nt | 31 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |