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Craniosynostosis

Gene: IFT122

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Craniosynostosis has been reported as a prominent feature of the condition in greater than 10 cases.
Sources: Expert list
Created: 18 Jun 2020, 8:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cranioectodermal dysplasia 1 MIM#218330

Publications

Created: 18 Jun 2020, 8:39 a.m.

Panel version: 0.78

History Filter Activity

17 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IFT122 were changed from Cranioectodermal dysplasia 1 MIM#218330 to Cranioectodermal dysplasia 1 MIM#218330; MONDO:0021093

18 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

18 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

18 Jun 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: IFT122 was added gene: IFT122 was added to Craniosynostosis. Sources: Expert list Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT122 were set to 26792575; 28370949; 29037998 Phenotypes for gene: IFT122 were set to Cranioectodermal dysplasia 1 MIM#218330 Review for gene: IFT122 was set to GREEN