Thoracic dystrophies
Gene: IFT140
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
JATD/MZSDS
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9
Comment on list classification: Two green reviews, green on the Unexplained skeletal dysplasia Version 1.32 gene panel, and >3 families/cases reported.Created: 25 May 2017, 10:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
JATD/MZSDS
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 9 with or without polydactyly
Publications
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).
Phenotypes for IFT140 were set to Mainzer-Saldino Syndrome; Short-rib thoracic dysplasia 9 with of without polydactyly, 266920
Publications for IFT140 were set to 22503633
This gene has been classified as Green List (High Evidence).
IFT140 was added to Thoracic dystrophiespanel. Sources: Radboud University Medical Center, Nijmegen
IFT140 was added to Thoracic dystrophiespanel. Sources: Illumina TruGenome Clinical Sequencing Services