Skeletal dysplasia
Gene: IFT88

IFT88 (intraflagellar transport 88)
EnsemblGeneIds (GRCh38): ENSG00000032742
EnsemblGeneIds (GRCh37): ENSG00000032742
OMIM: 600595, Gene2Phenotype
IFT88 is in 2 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Not associated with phenotype in OMIM, G2P, found in 1/4 sources (UKGTN in the Skeletal Dysplasia 222 Gene Exome Panel)
Created: 7 Jul 2016, 9:20 a.m.

Comment on list classification: Tier 3 gene for skeletal dysplasia (Ana Beleza). Evidence of association with skeletal dysplasia from animal model (PMID 23034798)
Created: 7 Jul 2016, 9:16 a.m.

Created: 7 Jul 2016, 9:16 a.m.

Panel version: 0.126

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 3
Created: 17 Jun 2016, 8:05 a.m.

Mode of inheritance
Unknown

Phenotypes
Short-rib thoracic dysplasia? Chang CF, Serra R. Ift88 regulates Hedgehog signaling, Sfrp5 expression, and ?-catenin activity in post-natal growth plate. J Orthop Res. 2013 Mar, 31(3):350-6

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:05 a.m.

Panel version: 0.4

Details

Mode of Inheritance

Unknown

Sources

Expert Review Red
UKGTN

OMIM

600595

Clinvar variants

Variants in IFT88

Penetrance

Complete

Publications

23034798

Panels with this gene