Pseudohypoaldosteronism Type 2
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 | WNK1/65125 | WNK lysine deficient protein kinase 1 | 12p13.33 | Chr12, NC_000012.12 (752579..911452) |
158874 nt | 31 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | WNK4/65266 | WNK lysine deficient protein kinase 4 | 17q21.2 | Chr17, NC_000017.11 (42780610..42797066) |
16457 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | CUL3/8452 | cullin 3 | 2q36.2 | Chr2, NC_000002.12 (224470150..224585363, complement) |
115214 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | KLHL3/26249 | kelch like family member 3 | 5q31.2 | Chr5, NC_000005.10 (137617500..137736089, complement) |
118590 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |