26 Oct 2021
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.55
IFT122
Sarah Leigh Publications for gene: IFT122 were set to 24689072; 20493458
26 Oct 2021
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.54
IFT122
Sarah Leigh 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
21 May 2019
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.113
IFT122
Eleanor Williams Classified gene: IFT122 as Green List (high evidence)
21 May 2019
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.113
IFT122
Eleanor Williams Added comment: 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.
21 May 2019
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.113
IFT122
Eleanor Williams Gene: ift122 has been classified as Green List (High Evidence).
11 May 2019
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72
IFT122
Eleanor Williams Added phenotypes Cranioectodermal dysplasia type 1 218330 for gene: IFT122
05 Mar 2019
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47
IFT122
Tracy Lester reviewed gene: IFT122: Rating: GREEN; Mode of pathogenicity: ; Publications: 24689072, 20493458; Phenotypes: Cranioectodermal dysplasia type 1 - 218330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Mar 2019
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46
IFT122
Eleanor Williams reviewed gene: IFT122: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Mar 2019
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45
IFT122
Eleanor Williams Source NHS GMS was added to IFT122.