Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Limb disorders

Gene: B9D2

No list

B9D2 (B9 domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000123810
EnsemblGeneIds (GRCh37): ENSG00000123810
OMIM: 611951, Gene2Phenotype
B9D2 is in 10 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.
Created: 2 Dec 2018, 10:38 p.m.
Comment when marking as ready: Marked as ready after reviewing the available evidence
Created: 16 Oct 2018, 3:17 p.m.
Comment on list classification: Rating as red as only 1 variant reported in 1 family in association with Meckel syndrome 10.
Created: 3 Oct 2018, 1:54 p.m.
In OMIM B9D2 is provisionally associated with ?Meckel syndrome 10 and is associated with Joubert syndrome 34.

Dowdle et al. (2011)(PMID: 21763481) report 2 fetuses from the same fifth degree consanguineous family with Meckel syndrome-10 with a homozygous mutation in the B9D2 gene (S101R). Phenotypes of both fetuses included polydactyly. They also report functional studies that show the p.Ser101Arg mutation abrogates the ability of B9d2 to interact with Mks1, further suggesting that the mutation compromises B9d2 function.

A PubMed search did not find any other cases of B9D2 variants in individuals with Meckel syndrome.

Bachmann-Gagescu et al. (2015) (PMID: 26092869) identified homozygous or compound heterozygous mutations in the B9D2 gene in 2 unrelated patients with Joubert syndrome. The mutations were identified by sequencing 27 candidate genes in 428 affected individuals from 363 families. Neither patient showed limb disorders relevant to this panel although one had tibial and fibular mesomelic dysplasia (Supplementary Table S7).
Created: 3 Oct 2018, 1:51 p.m.

Details

Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • ?Meckel syndrome 10 614175
  • Joubert syndrome 34 614175
OMIM
611951
Clinvar variants
Variants in B9D2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 0

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: In OMIM B9D2 is provisionally

2 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: b9d2 has been removed from the panel.

2 Dec 2018, Gel status: 0

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Removed was added to B9D2. Rating Changed from Red List (low evidence) to No List (delete)

16 Oct 2018, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: b9d2 has been classified as Red List (Low Evidence).

3 Oct 2018, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: b9d2 has been classified as Red List (Low Evidence).

3 Oct 2018, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: B9D2 were changed from Polydactyly to Polydactyly; ?Meckel syndrome 10 614175; Joubert syndrome 34 614175

3 Oct 2018, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: B9D2 were set to

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

B9D2 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

B9D2 was created by Ellen McDonagh