Syndromic Retinopathy
Gene: IFT81

IFT81 (intraflagellar transport 81)
EnsemblGeneIds (GRCh38): ENSG00000122970
EnsemblGeneIds (GRCh37): ENSG00000122970
OMIM: 605489, Gene2Phenotype
IFT81 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Gene has been predominantly associated with severe short-rib thoracic dysplasia with no retinopathy reported. Isolated retinopathy reported in one individual, PMID 28460050, and an NCL-like phenotype in another in PMID 26275418. Overall, good evidence this is a ciliopathy gene, but moderate evidence for retinal phenotype.
Created: 12 Oct 2020, 12:01 a.m. | Last Modified: 12 Oct 2020, 12:01 a.m.

Panel Version: 0.107

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895

Publications

Created: 12 Oct 2020, 12:01 a.m.
Last Modified: 12 Oct 2020, 12:01 a.m.
Panel version: 0.107

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
RetNet

Phenotypes

Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895

OMIM

605489

Clinvar variants

Variants in IFT81

Penetrance

None

Publications

Panels with this gene