RPGRIP1L
Gene name: RPGRIP1-likeOMIM ID: 610937
Chromosome location: 16q12.2
Mutations
| Disease/Phenotype | Joubert syndrome 7 |
|---|---|
| Reference transcript | NM_015272.2 |
| DNA Change | c.2268_2269delAA |
| A.A. Change | p.I756fsX769 |
| Exon/Intron | exon 16 |
| Mutation Type | deletion |
| Reference | Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L; International JSRD Study Group, Dallapiccola B, Gleeson JG, Valente EM.RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. Clin Genet. 2008 Aug;74(2):164-70. |
| Disease/Phenotype | Meckel syndrome, type 5 |
|---|---|
| Reference transcript | NM_015272.2 |
| DNA Change | c.394A>T |
| A.A. Change | p.Arg132Stop |
| Exon/Intron | exon 4 |
| Mutation Type | substitution |
| Reference | Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, et al.The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet. 2007 Jul;39(7):875-81. |