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  3. IFT122
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Skeletal ciliopathies

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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Multiple cases reported, for different variants.
Created: 13 Dec 2016, 4:10 p.m.
Comment on list classification: Multiple cases reported, for different variants.
Created: 13 Dec 2016, 4:10 p.m.
Created: 13 Dec 2016, 4:10 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.384

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • Cranioectodermal dysplasia
  • Cranioectodermal dysplasia 1, 218330
OMIM
606045
Clinvar variants
Variants in IFT122
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jul 2019, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: IFT122 was added gene: IFT122 was added to Skeletal ciliopathies. Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT122 were set to 19000668; 24027799; 23826986; 26792575; 24689072; 20493458 Phenotypes for gene: IFT122 were set to Cranioectodermal dysplasia; Cranioectodermal dysplasia 1, 218330