Osteogenesis imperfecta
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
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Remove from panelCreated: 27 Nov 2015, 3:04 p.m.
Details
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Phenotypes
-
- Disproportionate Short Stature
- Tags
- OMIM
- 604588
- Clinvar variants
- Variants in NEK1
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal dysplasia
- Limb disorders
- Dystonia, chorea or related movement disorder, childhood onset
- Osteogenesis imperfecta
- Skeletal ciliopathies
- Renal ciliopathies
- Neurodegenerative disorders, adult onset
- Clefting
- Ductal plate malformation
- Fetal anomalies
- Rare multisystem ciliopathy disorders
- Amyotrophic lateral sclerosis/motor neuron disease
- DDG2P
- Thoracic dystrophies
- Primary ciliary disorders
- Intellectual disability
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: NEK1.
12 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
12 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)NEK1 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory