Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis(Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Neuromuscular disorders category
Candidate Gene Information
An Autosomal recessive 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 | POLG/5428 | DNA polymerase gamma, catalytic subunit | 15q26.1 | Chr15, NC_000015.10 (89316320..89334824, complement) |
18505 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | TWNK/56652 | twinkle mtDNA helicase | 10q24.31 | Chr10, NC_000010.11 (100987543..100994403) |
6861 nt | 5 | 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 |