Thoracic dystrophies
Gene: DYNC2H1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Asphyxiating thoracic dystrophy 3, 613091Short rib-polydactyly syndrome, type III, 263510Short rib-polydactyly syndrome, type IIB, 615087
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Asphyxiating thoracic dystrophy 3, 613091Short rib-polydactyly syndrome, type III, 263510Short rib-polydactyly syndrome, type IIB, 615087
There is also evidence that SRTD can be caused by digenic biallelic mutations in the DYNC2H1 and NEK1 genes.Created: 23 Feb 2016, 4:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 3 with or without polydactyly
Phenotypes for gene: DYNC2H1 were changed from Asphyxiating thoracic dystrophy 3, 613091Short rib-polydactyly syndrome, type III, 263510Short rib-polydactyly syndrome, type IIB, 615087 to Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091
31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
DYNC2H1 was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory
DYNC2H1 was added to Thoracic dystrophiespanel. Sources: Radboud University Medical Center, Nijmegen
DYNC2H1 was added to Thoracic dystrophiespanel. Sources: Illumina TruGenome Clinical Sequencing Services