Thoracic dystrophies
Gene: IFT80

IFT80 (intraflagellar transport 80)
EnsemblGeneIds (GRCh38): ENSG00000068885
EnsemblGeneIds (GRCh37): ENSG00000068885
OMIM: 611177, Gene2Phenotype
IFT80 is in 13 panels

5 reviews

Melita Irving (Guy's and St Thomas' NHS Trust)

Green List (high evidence)

Phenotypes
Short-rib thoracic dysplasia 2 with or without polydactyly, 611263

Created: 26 May 2017, 8:01 a.m.

Panel version: 0.35

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY; SRTD2

Created: 26 May 2017, 7:40 a.m.

Panel version: Imported from "Clefting" panel version 0.193

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from amber to green due to two green reviews, and >3 families/cases reported. Is green on the Rare multisystem ciliopathy disorders Version 1.26 and Unexplained skeletal dysplasia Version 1.32 gene panels.
Created: 25 May 2017, 10:43 a.m.

Created: 25 May 2017, 10:43 a.m.

Panel version: 0.12

Hannah Mitchison (UCL and GOSH)

Green List (high evidence)

Phenotypes
Short-rib thoracic dysplasia 2 with or without polydactyly, 611263

Created: 25 May 2017, 9:22 a.m.

Panel version: 0.5

Helen Savage (Congenica Ltd)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 2 with or without polydactyly

Publications

Created: 24 Feb 2016, 9:14 a.m.

Panel version: 0.0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen

Phenotypes

Short-rib thoracic dysplasia 2 with or without polydactyly, 611263

OMIM

611177

Clinvar variants

Variants in IFT80

Penetrance

Complete

Publications

Panels with this gene