Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: BBS9

BBS9 (Bardet-Biedl syndrome 9)
EnsemblGeneIds (GRCh38): ENSG00000122507
EnsemblGeneIds (GRCh37): ENSG00000122507
OMIM: 607968, Gene2Phenotype
BBS9 is in 21 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Sewda et al 2019 reported BBS9 c.2209C>G:p.(Leu737Val) paternally inherited variant in a patient with coronal nonsyndromic craniosynostosis. BBS9 gene required for ciliogenesis during cranial suture development. Previously known as PTHB1 ; Review on behalf of GOSH/Tracy Lester
Created: 5 Mar 2019, 11:33 a.m.

Phenotypes
Bardet-Biedl syndrome 9, 615986

Created: 5 Mar 2019, 11:33 a.m.

Panel version: 1.47

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: BBS9; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.

Created: 5 Mar 2019, 11:21 a.m.

Panel version: 1.46

Details

Sources

NHS GMS

Phenotypes

Bardet-Biedl syndrome 9 615986

OMIM

607968

Clinvar variants

Variants in BBS9

Penetrance

None

Panels with this gene

History Filter Activity

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Bardet-Biedl syndrome 9 615986 for gene: BBS9

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: BBS9 was added gene: BBS9 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: BBS9 was set to

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: BBS9