Thoracic dystrophies
Gene: IFT81Comment on list classification: In view of two expert green reviews and PMID 27666822 with two unrelated cases of ATD with mutations in this gene, in addition to functional evidence linking this gene with disturbed ciliary architecture, considered green.Created: 30 May 2017, 12:03 p.m.
Comment on list classification: Seems to be four cases reported to date, though diversity in phenotype displayed. Plus in vitro evidence. Expert review green.Created: 30 May 2017, 8:09 a.m.
Comment on publications: PMID:27666822 - two cases reported with Short-rib polydactyly syndromes.Created: 30 May 2017, 7:59 a.m.
Comment on publications: 28460050 - reported for retinal dystrophy, in a patient with no skeletal defects.Created: 30 May 2017, 7:54 a.m.
Comment on list classification: Two variants of unknown significance in OMIM.Created: 30 May 2017, 7:32 a.m.
Phenotypes
SRPS
Phenotypes
SRPS
31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for IFT81 were set to Short-Rib Polydactyly Syndrome
Publications for IFT81 were set to 26275418; 28460050; 27666822
Mode of inheritance for IFT81 was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for IFT81 were set to 26275418; 28460050; 27666822
Publications for IFT81 were set to 26275418; 28460050;27666822
Publications for IFT81 were set to 26275418;28460050
Publications for IFT81 were set to 26275418
This gene has been classified as Amber List (Moderate Evidence).
This proposed gene was validated and added to this panel
IFT81 was added to Thoracic dystrophiespanel. Sources: Expert Review
IFT81 was created by hmitchis