List of diseases covered by
Senior-Loken Syndrome NGS panel
Gene | Condition |
CEP290 | Senior-Loken syndrome 6; Joubert syndrome 5; Leber congenital amaurosis 10; Meckel syndrome 4; Bardet-Biedl syndrome 14 |
INVS | Nephronophthisis 2, infantile |
IQCB1 | Senior-Loken syndrome 5 |
NPHP1 | Senior-Loken syndrome-1; Joubert syndrome 4; Nephronophthisis 1, juvenile |
NPHP3 | Nephronophthisis 3; Meckel syndrome 7; Renal-hepatic-pancreatic dysplasia 1 |
NPHP4 | Senior-Loken syndrome 4 |
SDCCAG8 | Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 |
TRAF3IP1 | Senior-Loken syndrome 9 |
WDR19 | Senior-Loken syndrome 8; Nephronophthisis 13 |