Rare multisystem ciliopathy disorders
Gene: IFT172
Reasonable number of case reports and good animal models. Offered on GOS ciliopathy panel and recognised on G2PCreated: 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
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Green List (High Evidence).
Publications for IFT172 were set to 24140113
This gene has been classified as Green List (High Evidence).
IFT172 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
IFT172 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
IFT172 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
IFT172 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Phenotypes for gene IFT172 were set to Retinitis pigmentosa 71, 616394;Short-rib thoracic dysplasia 10 with or without polydactyly, 615630
IFT172 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
IFT172 was created by ellenmcdonagh