Pontocerebellar Hypoplasia Type 1 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 | VRK1/7443 | VRK serine/threonine kinase 1 | 14q32.2 | Chr14, NC_000014.9 (96797382..96881609) |
84228 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | EXOSC3/51010 | exosome component 3 | 9p13.2 | Chr9, NC_000009.12 (37779714..37785092, complement) |
5379 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | CLP1/10978 | cleavage factor polyribonucleotide kinase subunit 1 | 11q12.1 | Chr11, NC_000011.10 (57657762..57661865) |
4104 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | CHMP1A/5119 | charged multivesicular body protein 1A | 16q24.3 | Chr16, NC_000016.10 (89644435..89657708, complement) |
13274 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GARD GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |