Skeletal dysplasia
Gene: NEK1
Cilliopathies with major skeletal involvement gp of SDs - at least 3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short rib thoracic dysplasia 6 with or without polydactyly - 263520
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: NEK1; 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, 9:49 a.m.
Tier 1Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
Other - please specify in evaluation comments
Phenotypes
Short-rib thoracic dysplasia 6 with or without polydactyly (Majewski) 263520 digenic recessive,
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Short rib thoracic dysplasia 6 with or without polydactyly - 263520 for gene: NEK1
Source NHS GMS was added to NEK1.
Promoted to version 1 9th August 2016
NEK1 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen NEK1 was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services NEK1 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory Model of inheritance for gene NEK1 was set to BIALLELIC, autosomal or pseudoautosomal
NEK1 was created by sleigh
NEK1 was added to Unexplained skeletal dysplasiapanel. Sources: