Limb disorders
Gene: B9D1Comment when marking as ready: Marked as ready after reviewing evidenceCreated: 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.
Phenotypes for gene: B9D1 were changed from Polydactyly; ?Meckel syndrome 9 614209; Joubert syndrome 27 617120 to Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927
Eleanor Williams: In OMIM B9D1 has a provisional
Gene: b9d1 has been classified as Red List (Low Evidence).
Phenotypes for gene: B9D1 were changed from Polydactyly to Polydactyly; ?Meckel syndrome 9 614209; Joubert syndrome 27 617120
Publications for gene: B9D1 were set to
Gene: b9d1 has been classified as Red List (Low Evidence).
B9D1 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
B9D1 was created by Ellen McDonagh