Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: IFT122
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/GOSHCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cranioectodermal dysplasia type 1 - 218330
Publications
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: greenCreated: 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.
Craniosynostosis occurs in a minority of cases. Mutations probably hypomorphic. Other features of cranioectodermal dysplasia should be present to confirm this diagnosisCreated: 15 Sep 2015, 8:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
cranioectodermal dysplasia
Publications
Publications for gene: IFT122 were set to 24689072; 20493458
Phenotypes for gene: IFT122 were changed from cranioectodermal dysplasia; Cranioectodermal dysplasia type 1 218330 to Cranioectodermal dysplasia type 1 OMIM:218330; cranioectodermal dysplasia 1 MONDO:0021093
Gene: ift122 has been classified as Green List (High Evidence).
Added phenotypes Cranioectodermal dysplasia type 1 218330 for gene: IFT122
Source NHS GMS was added to IFT122.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
IFT122 was added to Craniosynostosis syndromes phenotypespanel. Sources: Expert Review