Thoracic dystrophies
Gene: DYNC2H1EnsemblGeneIds (GRCh38): ENSG00000187240
EnsemblGeneIds (GRCh37): ENSG00000187240
OMIM: 603297, Gene2Phenotype
DYNC2H1 is in 15 panels
4 reviews
Melita Irving (Guy's and St Thomas' NHS Trust)
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
Helen Brittain (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3
Hannah Mitchison (UCL and GOSH)
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
Helen Savage (Congenica Ltd)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091
- OMIM
- 603297
- Clinvar variants
- Variants in DYNC2H1
- Penetrance
- Complete
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- DDG2P
- Intellectual disability
- Osteogenesis imperfecta
- Clefting
- Retinal disorders
- Ductal plate malformation
- Skeletal ciliopathies
- Fetal anomalies
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
Added New Source
Eik Haraldsdottir (Genomics England)DYNC2H1 was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory
Added New Source
Eik Haraldsdottir (Genomics England)DYNC2H1 was added to Thoracic dystrophiespanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
Eik Haraldsdottir (Genomics England)DYNC2H1 was added to Thoracic dystrophiespanel. Sources: Illumina TruGenome Clinical Sequencing Services