Thoracic dystrophies
Gene: NEK1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short rib-polydactyly syndrome, type IIA, 263520; Short Rib Polydactyly Syndrome
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short rib-polydactyly syndrome, type IIA, 263520; Short Rib Polydactyly Syndrome
There is also evidence that SRTD can be caused by digenic biallelic mutations in the DYNC2H1 and NEK1 genes.Created: 23 Feb 2016, 4:44 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 6 with or without polydactyly; Short-rib thoracic dysplasia 3 with or without polydactyly
31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
NEK1 was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory
NEK1 was added to Thoracic dystrophiespanel. Sources: Illumina TruGenome Clinical Sequencing Services
NEK1 was added to Thoracic dystrophiespanel. Sources: Radboud University Medical Center, Nijmegen