Limb disorders

Gene: B9D1

Comment when marking as ready: Marked as ready after reviewing evidence

Created: 16 Oct 2018, 3:16 p.m.

Comment on list classification: Rating red as insufficient evidence to associate this gene with Meckel syndrome 9.

Created: 3 Oct 2018, 1:10 p.m.

In OMIM B9D1 has a provisional association with Meckel syndrome 9, and is associated with Joubert syndrome 27. In Gene2Phenotype is has a probable association with Meckel syndrome 9.

Only one individual with Meckel syndrome 9 and a variant in B9D1 has been reported (Hopp et al. (2011) PMID: 21493627). This individual had one copy of the B9D1 gene deleted (other genes were also in the deletion) and an additional missense change in another MKS gene CEP290. Dowdle et al. (2011)(PMID: 21763481) report that mice lacking B9d1 displayed polydactyly, kidney cysts, ductal plate malformations, and abnormal patterning of the neural tube, concomitant with compromised ciliogenesis, ciliary protein localization, and Hedgehog (Hh) signal transduction.

Romani et al. (2014) (PMID: 24886560) identified biallelic mutations in the B9D1 gene in 2 unrelated children with Joubert syndrome-27.

Created: 3 Oct 2018, 1:05 p.m.