Skeletal dysplasia
Gene: DYNC2H1
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
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.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:34 a.m.
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
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
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
Source NHS GMS was added to DYNC2H1.
Promoted to version 1 9th August 2016
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
DYNC2H1 was created by sleigh
DYNC2H1 was added to Unexplained skeletal dysplasiapanel. Sources: