Congenital Anomalies Of Kidney And Urinary Tract 1(CAKUT1)
An Autosomal dominant mode(s) within the Multisystemic disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Multisystemic 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 | DSTYK/25778 | dual serine/threonine and tyrosine protein kinase | 1q32.1 | Chr1, NC_000001.11 (205142505..205211702, complement) |
69198 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | TRAP1/10131 | TNF receptor associated protein 1 | 16p13.3 | Chr16, NC_000016.10 (3658037..3717524, complement) |
59488 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | CELSR3/1951 | cadherin EGF LAG seven-pass G-type receptor 3 | 3p21.31 | Chr3, NC_000003.12 (48636463..48662886, complement) |
26424 nt | 35 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | PAX2/5076 | paired box 2 | 10q24.31 | Chr10, NC_000010.11 (100735396..100829944) |
94549 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities