Meckel syndrome, type 5
OMIM:611561Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | RPGRIP1L |
|---|---|
| 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. |