Skeletal dysplasia
Gene: IFT122

IFT122 (intraflagellar transport 122)
EnsemblGeneIds (GRCh38): ENSG00000163913
EnsemblGeneIds (GRCh37): ENSG00000163913
OMIM: 606045, Gene2Phenotype
IFT122 is in 14 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Cilliopathies with major skeletal involvement gp of SDs. At least 3 cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cranioectodermal dysplasia 1 218330

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: IFT122; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.
Created: 12 Jul 2016, 8:38 a.m.

Created: 12 Jul 2016, 8:38 a.m.

Panel version: 0.508

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cranioectodermal dysplasia 1 218330

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

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
Expert list
Emory Genetics Laboratory

Phenotypes

Cranioectodermal dysplasia 1 218330

OMIM

606045

Clinvar variants

Variants in IFT122

Penetrance

Complete

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Cranioectodermal dysplasia 1 218330 for gene: IFT122

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to IFT122. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4