Senior-Loken Syndrome(Nephronophthisis with retinal dystrophy) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Eye disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Eye 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 | SDCCAG8/10806 | SHH signaling and ciliogenesis regulator SDCCAG8 | 1q43 | Chr1, NC_000001.11 (243256041..243500091) |
244051 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | 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 |
| 3 | 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 |
| 4 | 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 |
| 5 | 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 |
| 6 | TRAF3IP1/26146 | TRAF3 interacting protein 1 | 2q37.3 | Chr2, NC_000002.12 (238320518..238400900) |
80383 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | NPHP1/4867 | nephrocystin 1 | 2q13 | Chr2, NC_000002.12 (110123348..110205013, complement) |
81666 nt | 23 | 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 |