Skeletal Dysplasia_Fetal
Gene: IFT172

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

24140113

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

Details

Mode of Inheritance

Unknown

Sources

Expert Review Green
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services
Expert Review Green
Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

OMIM

607386

Clinvar variants

Variants in IFT172

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IFT172 was added gene: IFT172 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IFT172 was set to Unknown

Skeletal Dysplasia_Fetal Gene: IFT172