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  3. IFT172
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Fetal anomalies

Gene: IFT172

Green List (high evidence)
IFT172 (intraflagellar transport 172)
EnsemblGeneIds (GRCh38): ENSG00000138002
EnsemblGeneIds (GRCh37): ENSG00000138002
OMIM: 607386, Gene2Phenotype
IFT172 is in 16 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 families reported with skeletal ciliopathy, supportive zebrafish model although note gene is also associated with other ciliopathy phenotypes, including BBS and RP.
Created: 3 Jul 2021, 7:04 a.m. | Last Modified: 3 Jul 2021, 7:04 a.m.
Panel Version: 0.77

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630

Publications

Created: 3 Jul 2021, 7:04 a.m.
Last Modified: 3 Jul 2021, 7:04 a.m.
Panel version: Imported from Skeletal Dysplasia_Fetal panel version Imported from Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy panel version 0.77

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Phenotypes
  • Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630
  • Bardet-Biedl syndrome
OMIM
607386
Clinvar variants
Variants in IFT172
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ift172 has been classified as Green List (High Evidence).

24 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IFT172 were changed from JEUNE SYNDROME; MAINZER-SALDINO SYNDROME to Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630; Bardet-Biedl syndrome

24 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IFT172 were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IFT172 was added gene: IFT172 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT172 were set to JEUNE SYNDROME; MAINZER-SALDINO SYNDROME