Thoracic dystrophies

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

Melita Irving (Guy's and St Thomas' NHS Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short rib-polydactyly syndrome, type IIA, 263520; Short Rib Polydactyly Syndrome

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6

Hannah Mitchison (UCL and GOSH)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short rib-polydactyly syndrome, type IIA, 263520; Short Rib Polydactyly Syndrome

Helen Savage (Congenica Ltd)

Green List (high evidence)

There is also evidence that SRTD can be caused by digenic biallelic mutations in the DYNC2H1 and NEK1 genes.
Created: 23 Feb 2016, 4:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 6 with or without polydactyly; Short-rib thoracic dysplasia 3 with or without polydactyly

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short rib-polydactyly syndrome, type IIA, 263520
  • Short Rib Polydactyly Syndrome
OMIM
604588
Clinvar variants
Variants in NEK1
Penetrance
Complete
Panels with this gene

History Filter Activity

31 May 2017, Gel status: 3

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.

6 May 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

NEK1 was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory

6 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

NEK1 was added to Thoracic dystrophiespanel. Sources: Illumina TruGenome Clinical Sequencing Services

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

NEK1 was added to Thoracic dystrophiespanel. Sources: Radboud University Medical Center, Nijmegen