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  2. Ectodermal Dysplasia
  3. IFT122
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Ectodermal Dysplasia

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Autosomal recessive disorder characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies. Multiple families reported.
Created: 3 Sep 2020, 7:18 a.m. | Last Modified: 3 Sep 2020, 7:18 a.m.
Panel Version: 0.4181

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cranioectodermal dysplasia 1, MIM# MIM#218330

Publications

Created: 3 Sep 2020, 7:18 a.m.
Last Modified: 3 Sep 2020, 7:18 a.m.
Panel version: Imported from Mendeliome panel version 0.4832

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Sensenbrenner syndrome, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2
OMIM
606045
Clinvar variants
Variants in IFT122
Penetrance
None
Panels with this gene

History Filter Activity

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: IFT122 was added gene: IFT122 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT122 were set to Sensenbrenner syndrome, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2