Bardet Biedl syndrome
Gene: BBS9EnsemblGeneIds (GRCh38): ENSG00000122507
EnsemblGeneIds (GRCh37): ENSG00000122507
OMIM: 607968, Gene2Phenotype
BBS9 is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association.Created: 10 Oct 2020, 8:44 a.m. | Last Modified: 10 Oct 2020, 8:44 a.m.
Panel Version: 0.69
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 9, MIM#615986
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Bardet-Biedl syndrome 9, MIM#615986
- MONDO:0014437
- OMIM
- 607968
- Clinvar variants
- Variants in BBS9
- Penetrance
- None
- Publications
- Panels with this gene
-
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Prepair 1000+
- BabyScreen+ newborn screening
- Renal Ciliopathies and Nephronophthisis
- Intellectual disability syndromic and non-syndromic
- Bardet Biedl syndrome
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Ataxia - paediatric
- Severe early-onset obesity
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: BBS9 were changed from Bardet-Biedl syndrome 9, MIM#615986 to Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bbs9 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: BBS9 were changed from to Bardet-Biedl syndrome 9, MIM#615986
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: BBS9 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: BBS9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: BBS9 was added gene: BBS9 was added to Bardet Biedl syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BBS9 was set to Unknown