Clefting
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
1 review
Helen Brittain (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY
- SRTD6
- OMIM
- 604588
- Clinvar variants
- Variants in NEK1
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Fetal anomalies
- Skeletal dysplasia
- Renal ciliopathies
- Dystonia, chorea or related movement disorder, childhood onset
- Osteogenesis imperfecta
- Clefting
- Limb disorders
- Skeletal ciliopathies
- Ductal plate malformation
- Rare multisystem ciliopathy disorders
- Amyotrophic lateral sclerosis/motor neuron disease
- Neurodegenerative disorders, adult onset
- DDG2P
- Thoracic dystrophies
- Primary ciliary disorders
History Filter Activity
31 May 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
26 May 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)NEK1 was added to Cleftingpanel. Sources: Expert Review Green
26 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NEK1 was created by ellenmcdonagh