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Limb disorders

Gene: B9D1

Red List (low evidence)

B9D1 (B9 domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000108641
EnsemblGeneIds (GRCh37): ENSG00000108641
OMIM: 614144, Gene2Phenotype
B9D1 is in 15 panels

1 review

Eleanor Williams (Genomics England Curator)

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.

History Filter Activity

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: In OMIM B9D1 has a provisional

16 Oct 2018, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: b9d1 has been classified as Red List (Low Evidence).

3 Oct 2018, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: B9D1 were changed from Polydactyly to Polydactyly; ?Meckel syndrome 9 614209; Joubert syndrome 27 617120

3 Oct 2018, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: B9D1 were set to

3 Oct 2018, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: b9d1 has been classified as Red List (Low Evidence).

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

B9D1 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

B9D1 was created by Ellen McDonagh