Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: IFT122

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

• 24689072
• 20493458

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.

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.

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

• 20493458
• 24689072