Bardet Biedl syndrome
Gene: IFT57EnsemblGeneIds (GRCh38): ENSG00000114446
EnsemblGeneIds (GRCh37): ENSG00000114446
OMIM: 606621, Gene2Phenotype
IFT57 is in 1 panel
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: As there is one patient and functional evidence reported, IFT57 should be rated amber with the current evidence.Created: 4 Jun 2025, 4:49 p.m. | Last Modified: 4 Jun 2025, 4:49 p.m.
Panel Version: 2.7
PMID:40273360 reported a 29-year-old male of Irish descent presenting with rod-cone degeneration leading to legal blindness, post-axial polydactyly, obesity, cognitive impairment, and fatty liver, features suggestive of a clinical diagnosis of Bardet-Biedl Syndrome. He was identified with biallelic variants in IFT57 gene (Val397Glu/Lys225Asnfs*17).
Patient-derived fibroblasts had fewer primary cilia, abnormal ciliary morphology and abnormal anterograde transport in the primary cilia. IFT57 knockout mouse models or RPE cell lines did not form primary cilia. Rescue of IFT57 knockout primary cilia with IFT57-WT restored cilia formation while IFT57-Val397Glu only partially rescued cilia formation in Ift57-KO-mouse cells.Created: 4 Jun 2025, 4:47 p.m. | Last Modified: 4 Jun 2025, 4:47 p.m.
Panel Version: 2.4
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome, MONDO:0015229
Publications
Krista Bukele (Children's Clinical University Hospital)
PMID: 40273360 described one case with Bardet-Biedl syndrome and biallelic variant in IFT57 with some functional evidence.
Sources: LiteratureCreated: 8 May 2025, 6:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome
Publications
- PMID: 40273360
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Bardet-Biedl syndrome, MONDO:0015229
- OMIM
- 606621
- Clinvar variants
- Variants in IFT57
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: ift57 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: IFT57 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome, MONDO:0015229
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: IFT57 were set to PMID: 40273360
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Krista Bukele (Children's Clinical University Hospital)gene: IFT57 was added gene: IFT57 was added to Bardet Biedl syndrome. Sources: Literature Mode of inheritance for gene: IFT57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT57 were set to PMID: 40273360 Phenotypes for gene: IFT57 were set to Bardet-Biedl syndrome Penetrance for gene: IFT57 were set to unknown Review for gene: IFT57 was set to AMBER