GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: DYNC2H1

DYNC2H1 (dynein cytoplasmic 2 heavy chain 1)
EnsemblGeneIds (GRCh38): ENSG00000187240
EnsemblGeneIds (GRCh37): ENSG00000187240
OMIM: 603297, Gene2Phenotype
DYNC2H1 is in 15 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Cilliopathies with major skeletal involvement gp of SDs. Several cases reported with biallelic mutations. Thiel et al 2011 report a possible digenic case with het variants in this gene and NEK1.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short rib polydactyly syndrome (SRPS) type 3 with or without polydactyly, 613091

Publications

21211617

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Short rib polydactyly syndrome (SRPS) type 3 with or without polydactyly, 613091

OMIM

603297

Clinvar variants

Variants in DYNC2H1

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: DYNC2H1 was added gene: DYNC2H1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DYNC2H1 were set to Short rib polydactyly syndrome (SRPS) type 3 with or without polydactyly, 613091

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: DYNC2H1