Nephronophthisis
An Autosomal recessive mode(s) within the Nephrological disorders category
Candidate Gene Information
An Autosomal recessive 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 | XPNPEP3/63929 | X-prolyl aminopeptidase 3 | 22q13.2 | Chr22, NC_000022.11 (40857148..40932815) |
75668 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | TMEM67/91147 | transmembrane protein 67 | 8q22.1 | Chr8, NC_000008.11 (93754844..93832653) |
77810 nt | 35 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | NEK8/284086 | NIMA related kinase 8 | 17q11.2 | Chr17, NC_000017.11 (28728788..28743455) |
14668 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | NPHP3/27031 | nephrocystin 3 | 3q22.1 | Chr3, NC_000003.12 (132680609..132722409, complement) |
41801 nt | 27 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | NPHP4/261734 | nephrocystin 4 | 1p36.31 | Chr1, NC_000001.11 (5862811..5992425, complement) |
129615 nt | 38 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | NPHP1/4867 | nephrocystin 1 | 2q13 | Chr2, NC_000002.12 (110123348..110205013, complement) |
81666 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | WDR19/57728 | WD repeat domain 19 | 4p14 | Chr4, NC_000004.12 (39182529..39285810) |
103282 nt | 37 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | TTC21B/79809 | tetratricopeptide repeat domain 21B | 2q24.3 | Chr2, NC_000002.12 (165873362..165953776, complement) |
80415 nt | 33 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | CEP164/22897 | centrosomal protein 164 | 11q23.3 | Chr11, NC_000011.10 (117321778..117413266) |
91489 nt | 35 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | ANKS6/203286 | ankyrin repeat and sterile alpha motif domain containing 6 | 9q22.33 | Chr9, NC_000009.12 (98732009..98796555, complement) |
64547 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | GLIS2/84662 | GLIS family zinc finger 2 | 16p13.3 | Chr16, NC_000016.10 (4314761..4339595) |
24835 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 12 | CEP83/51134 | centrosomal protein 83 | 12q22 | Chr12, NC_000012.12 (94265662..94460454, complement) |
194793 nt | 30 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 13 | DCDC2/51473 | doublecortin domain containing 2 | 6p22.3 | Chr6, NC_000006.12 (24171755..24383292, complement) |
211538 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 14 | RPGRIP1L/23322 | RPGRIP1 like | 16q12.2 | Chr16, NC_000016.10 (53598153..53703859, complement) |
105707 nt | 36 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 15 | IQCB1/9657 | IQ motif containing B1 | 3q13.33 | Chr3, NC_000003.12 (121769761..121835060, complement) |
65300 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 16 | INVS/27130 | inversin | 9q31.1 | Chr9, NC_000009.12 (100099243..100302175) |
202933 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 17 | MAPKBP1/23005 | mitogen-activated protein kinase binding protein 1 | 15q15.1 | Chr15, NC_000015.10 (41774484..41827855) |
53372 nt | 32 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 18 | RBM48/84060 | RNA binding motif protein 48 | 7q21.2 | Chr7, NC_000007.14 (92528795..92540481) |
11687 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 19 | INCENP/3619 | inner centromere protein | 11q12.3 | Chr11, NC_000011.10 (62124011..62153169) |
29159 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 20 | FAM186B/84070 | family with sequence similarity 186 member B | 12q13.12 | Chr12, NC_000012.12 (49582873..49622758, complement) |
39886 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 21 | PIAS1/8554 | protein inhibitor of activated STAT 1 | 15q23 | Chr15, NC_000015.10 (68054315..68193847) |
139533 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 22 | CEP290/80184 | centrosomal protein 290 | 12q21.32 | Chr12, NC_000012.12 (88049016..88142088, complement) |
93073 nt | 60 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 23 | ZNF423/23090 | zinc finger protein 423 | 16q12.1 | Chr16, NC_000016.10 (49487524..49859279, complement) |
371756 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 24 | AHI1/54806 | Abelson helper integration site 1 | 6q23.3 | Chr6, NC_000006.12 (135283532..135497740, complement) |
214209 nt | 36 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 25 | RMND1/55005 | required for meiotic nuclear division 1 homolog | 6q25.1 | Chr6, NC_000006.12 (151404762..151452126, complement) |
47365 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 26 | MKKS/8195 | MKKS centrosomal shuttling protein | 20p12.2 | Chr20, NC_000020.11 (10401009..10434222, complement) |
33214 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 27 | SLC41A1/254428 | solute carrier family 41 member 1 | 1q32.1 | Chr1, NC_000001.11 (205789095..205813198, complement) |
24104 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 28 | ADAMTS9/56999 | ADAM metallopeptidase with thrombospondin type 1 motif 9 | 3p14.1 | Chr3, NC_000003.12 (64515654..64688000, complement) |
172347 nt | 41 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||