Autosomal Recessive Spinocerebellar Ataxia 17(Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency)
An Autosomal recessive mode(s) within the Neurodegenerative disorders category
Candidate Gene Information
An Autosomal recessive 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 | CWF19L1/55280 | CWF19 like cell cycle control factor 1 | 10q24.31 | Chr10, NC_000010.11 (100232298..100267638, complement) |
35341 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities