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Skeletal dysplasia

Gene: NEK1

Green List (high evidence)

NEK1 (NIMA related kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000137601
EnsemblGeneIds (GRCh37): ENSG00000137601
OMIM: 604588, Gene2Phenotype
NEK1 is in 16 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Cilliopathies with major skeletal involvement gp of SDs - at least 3 cases; Review on behalf of Tracy Lester
Created: 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

Eleanor Williams (Genomics England Curator)

I don't know

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: green
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve Abbs
Created: 27 Jul 2016, 9:49 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short rib thoracic dysplasia 6 with or without polydactyly - 263520
  • SRPS type 2 (Majewski)
  • Short Rib Polydactyly Syndrome
  • Short rib-polydactyly syndrome, type IIA, 263520
OMIM
604588
Clinvar variants
Variants in NEK1
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Short rib thoracic dysplasia 6 with or without polydactyly - 263520 for gene: NEK1

6 Mar 2019, Gel status: 3

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to NEK1.

9 Aug 2016, Gel status: 3

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

18 May 2016, Gel status: 3

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

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

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

NEK1 was created by sleigh

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

NEK1 was added to Unexplained skeletal dysplasiapanel. Sources: