Hirayama Disease
An Unknown mode(s) within the Neuromuscular disorders category
Candidate Gene Information
An Unknown 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 | CPLANE1/65250 | ciliogenesis and planar polarity effector complex subunit 1 | 5p13.2 | Chr5, NC_000005.10 (37075669..37249376, complement) |
173708 nt | 55 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | CEP126/57562 | centrosomal protein 126 | 11q22.1 | Chr11, NC_000011.10 (101915010..102001062) |
86053 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GTR MalaCards NORD | ||||||||
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Clinical Symptoms & Disabilities