Rare multisystem ciliopathy disorders
Gene: NEK1EnsemblGeneIds (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
- Other
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Short-rib thoracic dysplasia 6 with or without polydactyly, 263520
- Short-rib thoracic dysplasia 6 with or without polydactyly
- OMIM
- 604588
- Clinvar variants
- Variants in NEK1
- Penetrance
- Complete
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- DDG2P
- Intellectual disability
- Osteogenesis imperfecta
- Clefting
- Adult onset neurodegenerative disorder
- Ductal plate malformation
- Skeletal ciliopathies
- Fetal anomalies
- Amyotrophic lateral sclerosis/motor neuron disease
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for NEK1 was changed to BIALLELIC, autosomal or pseudoautosomal
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for NEK1 was changed to Other - please specifiy in evaluation comments
Added New Source
Ellen McDonagh (Genomics England Curator)NEK1 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
Upload gene information
Ellen McDonagh (Genomics England Curator)NEK1 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
Upload gene information
Ellen McDonagh (Genomics England Curator)NEK1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
Upload gene information
Ellen McDonagh (Genomics England Curator)NEK1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene NEK1 were set to Short-rib thoracic dysplasia 6 with or without polydactyly, 263520
Added New Source
Ellen McDonagh (Genomics England Curator)NEK1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)NEK1 was created by ellenmcdonagh