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Severe Paediatric Disorders

Gene: IFT122

Green List (high evidence)

IFT122 (intraflagellar transport 122)
EnsemblGeneIds (GRCh38): ENSG00000163913
EnsemblGeneIds (GRCh37): ENSG00000163913
OMIM: 606045, Gene2Phenotype
IFT122 is in 16 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

ClinGen Definitive gene / disease association (https://search.clinicalgenome.org/kb/genes/HGNC:13556).
Created: 26 Oct 2021, 11:36 a.m. | Last Modified: 26 Oct 2021, 11:36 a.m.
Panel Version: 1.84

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: IFT122; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cranioectodermal dysplasia 1, 218330 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:20 p.m. | Last Modified: 20 Feb 2020, 5:20 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Cranioectodermal dysplasia 1, 218330
OMIM
606045
Clinvar variants
Variants in IFT122
Penetrance
None
Publications
Panels with this gene