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Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: BBS9

Red List (low evidence)

BBS9 (Bardet-Biedl syndrome 9)
EnsemblGeneIds (GRCh38): ENSG00000122507
EnsemblGeneIds (GRCh37): ENSG00000122507
OMIM: 607968, Gene2Phenotype
BBS9 is in 23 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.

Bardet-Biedl syndrome 9, 615986

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.

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