Autosomal Dominant Polycystic Kidney Disease(ADPKD)
An Autosomal dominant mode(s) within the Nephrological disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Nephrological 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 | PKD2/5311 | polycystin 2, transient receptor potential cation channel | 4q22.1 | Chr4, NC_000004.12 (88007635..88077777) |
70143 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | PKD1/5310 | polycystin 1, transient receptor potential channel interacting | 16p13.3 | Chr16, NC_000016.10 (2088708..2135898, complement) |
47191 nt | 51 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | GANAB/23193 | glucosidase II alpha subunit | 11q12.3 | Chr11, NC_000011.10 (62624829..62646613, complement) |
21785 nt | 26 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | DNAJB11/51726 | DnaJ heat shock protein family (Hsp40) member B11 | 3q27.3 | Chr3, NC_000003.12 (186570720..186585793) |
15074 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities