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Severe Paediatric Disorders

Gene: IFT80

Green List (high evidence)

IFT80 (intraflagellar transport 80)
EnsemblGeneIds (GRCh38): ENSG00000068885
EnsemblGeneIds (GRCh37): ENSG00000068885
OMIM: 611177, Gene2Phenotype
IFT80 is in 14 panels

1 review

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: IFT80; Recommended initial gene rating: Green List (high evidence); Phenotypes: Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (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
  • Short-rib thoracic dysplasia 2 with or without polydactyly, 611263
OMIM
611177
Clinvar variants
Variants in IFT80
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: