Craniosynostosis

Gene: IFT122

Green List (high evidence)

IFT122 (intraflagellar transport 122)
EnsemblGeneIds (GRCh38): ENSG00000163913
EnsemblGeneIds (GRCh37): ENSG00000163913
OMIM: 606045, Gene2Phenotype
IFT122 is in 18 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Characterised by sagittal CSS. Overlap with WDR35. Blueprint genetics note that the gene is at least partially duplicated elsewhere in the genome. Note added by GOSH - Pseudogene LOC653712. At least 3 unrelated cases reported. ; Review on behalf of Tracy Lester/Andrew Wilkie/GOSH
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cranioectodermal dysplasia type 1 - 218330

Publications

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Upgrading from red to green. Green rating agreed at the GMS musculoskeletal specialist test group Webex on 2019-05-13. 3 cases now reported.
Created: 21 May 2019, 12:59 p.m.
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; Suggested initial gene rating: green
Created: 5 Mar 2019, 11:21 a.m.

Richard Scott (Genomics England Curator)

Comment when marking as ready: Craniosynostosis occurs in a minority of cases. Other features of cranioectodermal dysplasia should be present to confirm this diagnosis.
Created: 1 Feb 2016, 12:26 p.m.
Comment on list classification: Craniosynostosis occurs in a minority of cases.
Created: 1 Feb 2016, 12:25 p.m.

Andrew Wilkie (University of Oxford)

Red List (low evidence)

Craniosynostosis occurs in a minority of cases. Mutations probably hypomorphic. Other features of cranioectodermal dysplasia should be present to confirm this diagnosis
Created: 15 Sep 2015, 8:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
cranioectodermal dysplasia

Publications

History Filter Activity

21 May 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ift122 has been classified as Green List (High Evidence).

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Cranioectodermal dysplasia type 1 218330 for gene: IFT122

5 Mar 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to IFT122.

4 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Sep 2015, Gel status: 0

Added New Source

Andrew Wilkie (University of Oxford)

IFT122 was added to Craniosynostosis syndromes phenotypespanel. Sources: Expert Review