Thoracic dystrophies

Gene: DYNC2H1

Green List (high evidence)

DYNC2H1 (dynein cytoplasmic 2 heavy chain 1)
EnsemblGeneIds (GRCh38): ENSG00000187240
EnsemblGeneIds (GRCh37): ENSG00000187240
OMIM: 603297, Gene2Phenotype
DYNC2H1 is in 17 panels

4 reviews

Melita Irving (Guy's and St Thomas' NHS Trust)

Green List (high evidence)

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)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3

Hannah Mitchison (UCL and GOSH)

Green List (high evidence)

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)

Green List (high evidence)

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
  • Asphyxiating thoracic dystrophy 3, 613091Short rib-polydactyly syndrome, type III, 263510Short rib-polydactyly syndrome, type IIB, 615087
OMIM
603297
Clinvar variants
Variants in DYNC2H1
Penetrance
Complete
Panels with this gene

History Filter Activity

31 May 2017, Gel status: 3

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.

6 May 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

DYNC2H1 was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory

6 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

DYNC2H1 was added to Thoracic dystrophiespanel. Sources: Radboud University Medical Center, Nijmegen

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

DYNC2H1 was added to Thoracic dystrophiespanel. Sources: Illumina TruGenome Clinical Sequencing Services