Table 1.
Continued
| Familya | A Priori Clinical Diagnosis | Post-WES Diagnosis | Extrarenal Manifestations | Family History | Homozygosity (>75 MB) | Gene | Zygosity | c.Change p.Change Segregation (m, p)b | Conservation | PP2c SIFTd/MutationTastere | Allele Frequency in gnomADf | HGMDg (ACMGh) | PMID (if previously reported) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Renal cystic ciliopathies | |||||||||||||
| A4037l | NPHP | NPHP | Retinal degeneration, pseudotumor cerebri, macrocephaly, XXX karyotype | No | No | CEP83 | Hom | c.2007delA | N/A | N/A | None | Variant (P) | #24882706 |
| p.E669Dfs*14 (het, het) | |||||||||||||
| B659 | Senior Loken syndrome | Senior Loken syndrome | Retinal degeneration | Yes (sister) | No | CEP83 | Hom | c.2007delA | N/A | N/A | None | Variant (P) | #24882706 |
| p.E669Dfs*14 (NA) | |||||||||||||
| B06 | Short-rib thoracic dysplasia | Short-rib thoracic dysplasia | Restrictive lung disease, cholestatic liver disease | No | No | DYNC2H1 | Cpd het | c.9638A>G | D.m. | 1.00 Del/DC | 0/1/31,366 | Gene (LP) | Novel |
| p.Y3213C (WT; het) | |||||||||||||
| c.12431C>G | G.g. | 0.97 Del/DC | 0/3/279,946 | Gene (LP) | Novel | ||||||||
| p.P4144R (het; WT) | |||||||||||||
| B1233 | NPHP | RCAD | None | No | No | HNF1B | Het | c.857T>C | C.i. | 1.00 Del/— | None | Gene (LP) | Novel |
| p.L286P (NA) | |||||||||||||
| B367 | NPHP | NPHP | None | No | No | NPHP1 | Hom | Homozygous deletion (NA) | Variant (P) | #9326933 | |||
| B950 | NPHP | NPHP | Oculomotor apraxia | No | No | NPHP1 | Hom | Homozygous deletion (NA) | Variant (P) | #9326933 | |||
| B375 | ARPKD | ARPKD | Increased heterogeneity of liver, splenomegaly | No | No | PKHD1 | Cpd het | c.10452dupT | N/A | N/A | 0/1/250,588 | Variant (P) | #15108281 |
| p.L3485Sfs*18 (NA)k | |||||||||||||
| c.11452G>T | X.t. | 0.6 Del/DC | 0/1/251,398 | Gene (LP) | Novel | ||||||||
| p.V3818F (NA)k | |||||||||||||
| Nephrolithiasis/nephrocalcinosis | |||||||||||||
| B949 | PH1 | PH1 | None | No | No | AGXT | Cpd het | c.33dupC | N/A | N/A | 0/43/270,822 | Variant (P) | #10394939 |
| p.K12Qfs*156 (NA)k | |||||||||||||
| c.508G>A | D.m. | 1.00 Del/DC | 1/136/252,084 | Variant (P) | #23229545 | ||||||||
| p.G170R (NA)k | |||||||||||||
| B2404 | PH1 | PH1 | Hypothyroidism | No | No | AGXT | Hom | c.245G>A | S.c. | 1.00 Del/DC | 0/5/251,218 | Variant(P) | #1349575 |
| p.G82E (het, het) | |||||||||||||
| B942 | PH1 | PH1 | None | No | No | AGXT | Hom | c.473C>T | D.r. | 0.99 Del/DC | 0/1/226,530 | Variant (P) | #15849466 |
| p.S158L (NA) | |||||||||||||