Skeletal ciliopathies
Gene: NEK1
NEK1 (NIMA related kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000137601
EnsemblGeneIds (GRCh37): ENSG00000137601
OMIM: 604588, Gene2Phenotype
NEK1 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000137601
EnsemblGeneIds (GRCh37): ENSG00000137601
OMIM: 604588, Gene2Phenotype
NEK1 is in 16 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Changed to 'biallelic' to capture.Created: 3 Apr 2017, 4:48 p.m.
Alice Gardham (Genomics England)
Comment when marking as ready: Recognised on G2P. Many case reports. On GOS ciliopathy panelCreated: 19 Jan 2017, 3:17 p.m.
Comment on mode of inheritance: Biallelic. One report of digenic inheritance with DYNC2H1 also reportedCreated: 19 Jan 2017, 3:16 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Other
- Emory Genetics Laboratory
- Phenotypes
-
- Short-rib thoracic dysplasia 6 with or without polydactyly
- Short-rib thoracic dysplasia 6 with or without polydactyly, 263520
- OMIM
- 604588
- Clinvar variants
- Variants in NEK1
- Penetrance
- None
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- DDG2P
- Clefting
- Osteogenesis imperfecta
- Adult onset neurodegenerative disorder
- Ductal plate malformation
- Skeletal ciliopathies
- Skeletal dysplasia
- Fetal anomalies
- Amyotrophic lateral sclerosis/motor neuron disease
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
10 Jul 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: NEK1 was added gene: NEK1 was added to Skeletal ciliopathies. Sources: Emory Genetics Laboratory,Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NEK1 were set to Short-rib thoracic dysplasia 6 with or without polydactyly; Short-rib thoracic dysplasia 6 with or without polydactyly, 263520