Skeletal ciliopathies

Gene: IFT172

Green List (high evidence)

IFT172 (intraflagellar transport 172)
EnsemblGeneIds (GRCh38): ENSG00000138002
EnsemblGeneIds (GRCh37): ENSG00000138002
OMIM: 607386, Gene2Phenotype
IFT172 is in 19 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Reasonable number of case reports and good animal models. Offered on GOS ciliopathy panel and recognised on G2P
Created: 19 Jan 2017, 4:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 10 with or without polydactyly 615630

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
Phenotypes
  • Retinitis pigmentosa 71, 616394
  • Short-rib thoracic dysplasia 10 with or without polydactyly
  • Saldino-Mainzer syndrome
  • Jeune syndrome
  • Short-rib thoracic dysplasia 10 with or without polydactyly, 615630
OMIM
607386
Clinvar variants
Variants in IFT172
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: IFT172 was added gene: IFT172 was added to Skeletal ciliopathies. Sources: Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT172 were set to 24140113 Phenotypes for gene: IFT172 were set to Retinitis pigmentosa 71, 616394; Short-rib thoracic dysplasia 10 with or without polydactyly; Saldino-Mainzer syndrome; Jeune syndrome; Short-rib thoracic dysplasia 10 with or without polydactyly, 615630