Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 582
MIM: 209901
HGNC: 966
Ensembl: ENSG00000174483
Variants:
dbSNP: 582
ClinVar: 582
TCGA: ENSG00000174483
COSMIC: BBS1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35695966 | 2023 | Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B. | 1 |
| 37612261 | 2023 | Recurrence of a BBS1 variant in Bardet-Biedl patients from Prince Edward Island. | 0 |
| 37998397 | 2023 | De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1. | 0 |
| 35695966 | 2023 | Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B. | 1 |
| 37612261 | 2023 | Recurrence of a BBS1 variant in Bardet-Biedl patients from Prince Edward Island. | 0 |
| 37998397 | 2023 | De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1. | 0 |
| 33910932 | 2022 | BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa. | 11 |
| 33910932 | 2022 | BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa. | 11 |
| 33169370 | 2021 | A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome. | 16 |
| 33572860 | 2021 | BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells. | 8 |
| 33630762 | 2021 | Bardet-Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons. | 21 |
| 34423835 | 2021 | The Bardet-Biedl syndrome complex component BBS1 controls T cell polarity during immune synapse assembly. | 9 |
| 34940782 | 2021 | Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10. | 7 |
| 33169370 | 2021 | A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome. | 16 |
| 33572860 | 2021 | BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells. | 8 |
Citation
Dessen P
BBS1 (Bardet-Biedl syndrome 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60714/bbs1-(bardet-biedl-syndrome-1)
