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Gene: BBS9

Green List (high evidence)
BBS9 (Bardet-Biedl syndrome 9)
EnsemblGeneIds (GRCh38): ENSG00000122507
EnsemblGeneIds (GRCh37): ENSG00000122507
OMIM: 607968, Gene2Phenotype
BBS9 is in 15 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

BBS9 gene (aka PTHB1) is associated with Bardet-Biedl syndrome 9 (BBS), a ciliopathy involving intellectual disability, polydactyly, renal disease and retinitis pigmentosa (OMIM).

Genotype-phenotype correlation is unclear for genes associated with BBS, and great clinical variability is observed within and between families (PMID: 33771153). Most patients carry mutations in genes encoding for the subunits of the
BBSome. Core BBSome subunits including BBS9 manifest as more critical for the function and development of kidneys than peripheral subunits (PMID: 31283077).
Created: 25 Oct 2024, 1:11 a.m. | Last Modified: 25 Oct 2024, 1:11 a.m.
Panel Version: 1.486

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 9 MIM#615986

Publications

Created: 25 Oct 2024, 1:11 a.m.
Last Modified: 25 Oct 2024, 1:11 a.m.
Panel version: 1.486

History Filter Activity

31 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bbs9 has been classified as Green List (High Evidence).

31 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BBS9 were changed from Bardet-Biedl syndrome 9, 615986 (3) to Bardet-Biedl syndrome 9 MIM#615986

31 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BBS9 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Bardet-Biedl syndrome 9, 615986 (3) for gene: BBS9

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BBS9 was added gene: BBS9 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS9 were set to Bardet-Biedl syndrome 9, 615986 (3)