Skeletal dysplasia
Gene: DYNC2H1EnsemblGeneIds (GRCh38): ENSG00000187240
EnsemblGeneIds (GRCh37): ENSG00000187240
OMIM: 603297, Gene2Phenotype
DYNC2H1 is in 15 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
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 LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short rib polydactyly syndrome (SRPS) type 3 with or without polydactyly, 613091
Publications
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: DYNC2H1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Sarah Leigh (Genomics England Curator)
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:34 a.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 1Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
Other - please specify in evaluation comments
Phenotypes
Short-rib thoracic dysplasia 3 with or without polydactyly 613091 digenic recessive and autosomal recessive
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091
- OMIM
- 603297
- Clinvar variants
- Variants in DYNC2H1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- Retinal disorders
- DDG2P
- Fetal anomalies
- Clefting
- Osteogenesis imperfecta
- Ductal plate malformation
- Skeletal ciliopathies
- Skeletal dysplasia
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- 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 Short rib polydactyly syndrome (SRPS) type 3 with or without polydactyly, 613091; Short rib polydactyly syndrome (SRPS) type 1/3 (Saldino-Noonan/Verma-Naumoff); 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
Set Phenotypes, Set publications
Eleanor Williams (Genomics England Curator)Added phenotypes Short rib polydactyly syndrome (SRPS) type 3 with or without polydactyly, 613091 for gene: DYNC2H1 Publications for gene DYNC2H1 were changed from to 21211617
Added New Source
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to DYNC2H1.
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)DYNC2H1 was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services DYNC2H1 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen DYNC2H1 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory Model of inheritance for gene DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Created
Sarah Leigh (Genomics England Curator)DYNC2H1 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)DYNC2H1 was added to Unexplained skeletal dysplasiapanel. Sources: