Joubert syndrome 7
OMIM:611560Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | RPGRIP1L |
|---|---|
| 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. |