Thoracic dystrophies
Gene: IFT52Comment on list classification: Two cases, and green expert review.Created: 30 May 2017, 7:30 a.m.
Comment on publications: PMID: 27466190 - compound heterozygosity for mutations in IFT52 was identified in a case of short-rib polydactyly syndrome.Created: 30 May 2017, 7:26 a.m.
Phenotypes
SRPS
Comment when marking as ready: Only two unrelated cases but two expert reviews green and a relevant phenotype. On balance, considered as sufficient for inclusion.Created: 30 May 2017, 11:49 a.m.
Only two cases identified to date. There is evidence of IFT52 role in transport regarding cilia howeverCreated: 25 May 2017, 12:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY, SRTD16 #617102
Phenotypes
SRPS
Phenotypes for gene: IFT52 were changed from SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY, SRTD16 #617102 to Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102; Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
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).
Phenotypes for IFT52 were set to SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY, SRTD16 #617102
Mode of inheritance for IFT52 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
Publications for IFT52 were set to 27466190; 26880018
Publications for IFT52 were set to 27466190
This proposed gene was validated and added to this panel
IFT52 was created by hmitchis
IFT52 was added to Thoracic dystrophiespanel. Sources: Expert Review