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Mendeliome

Gene: IFT57

Amber List (moderate evidence)

IFT57 (intraflagellar transport 57)
EnsemblGeneIds (GRCh38): ENSG00000114446
EnsemblGeneIds (GRCh37): ENSG00000114446
OMIM: 606621, Gene2Phenotype
IFT57 is in 8 panels

2 reviews

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

PMID:40273360 Nitoiu et al 2025 report a male with clinical features of Bardet-Biedl syndrome. Phenotypic features include:
- Vision issues - night vision loss, progressive cone-rod dystrophy leading to legal blindness
- Post-axial polydactyly
- Obesity and type 2 diabetes
- Learning difficulties
- Moderate sensorineural hearing loss

Biallelic IFT57 variants were identified on short-read genomic sequencing after negative panel-based clinical testing - NM_018010.4 (IFT57): c.1190 T>A;p.(Val397Glu) and c.675del; p.(Lys225Asnfs∗17).

Patient-derived fibroblasts had fewer primary cilia, abnormal ciliary morphology and abnormal anterograde transport in the primary cilia. IFT57 knockout mouse models did not form primary cilia. Treatment with IFT57-WT restored cilia formation while IFT57-Val397Glu only partially rescued cilia formation in Ift57-KO-mouse cells.
Created: 30 Apr 2025, 12:25 a.m. | Last Modified: 30 Apr 2025, 12:25 a.m.
Panel Version: 1.2512

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Bield syndrome; ciliopathy - MONDO:0005308

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported.
Created: 3 Jan 2020, 9:58 a.m. | Last Modified: 3 Jan 2020, 9:58 a.m.
Panel Version: 0.596

Phenotypes
Orofaciodigital syndrome XVIII, MIM# 617927

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Orofaciodigital syndrome XVIII, MIM# 617927
  • Bardet-Bield syndrome
  • ciliopathy - MONDO:0005308
OMIM
606621
Clinvar variants
Variants in IFT57
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Apr 2025, Gel status: 2

Set Phenotypes

Krithika Murali (Victorian Clinical Genetics Services)

Phenotypes for gene: IFT57 were changed from Orofaciodigital syndrome XVIII, MIM# 617927; Bardet-Bield syndrome; ciliopathy - MONDO:0005308 to Orofaciodigital syndrome XVIII, MIM# 617927; Bardet-Bield syndrome; ciliopathy - MONDO:0005308

30 Apr 2025, Gel status: 2

Set Phenotypes

Krithika Murali (Victorian Clinical Genetics Services)

Phenotypes for gene: IFT57 were changed from Orofaciodigital syndrome XVIII, MIM# 617927 to Orofaciodigital syndrome XVIII, MIM# 617927; Bardet-Bield syndrome; ciliopathy - MONDO:0005308

30 Apr 2025, Gel status: 2

Entity classified by Genomics England curator

Krithika Murali (Victorian Clinical Genetics Services)

Gene: ift57 has been classified as Amber List (Moderate Evidence).

3 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ift57 has been classified as Red List (Low Evidence).

3 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IFT57 were changed from to Orofaciodigital syndrome XVIII, MIM# 617927

3 Jan 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IFT57 were set to

3 Jan 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: IFT57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

3 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ift57 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IFT57 was added gene: IFT57 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IFT57 was set to Unknown