Thoracic dystrophies
Gene: NEK1EnsemblGeneIds (GRCh38): ENSG00000137601
EnsemblGeneIds (GRCh37): ENSG00000137601
OMIM: 604588, Gene2Phenotype
NEK1 is in 16 panels
4 reviews
Melita Irving (Guy's and St Thomas' NHS Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short rib-polydactyly syndrome, type IIA, 263520; Short Rib Polydactyly Syndrome
Helen Brittain (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6
Hannah Mitchison (UCL and GOSH)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short rib-polydactyly syndrome, type IIA, 263520; Short Rib Polydactyly Syndrome
Helen Savage (Congenica Ltd)
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
-
- 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
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.
Added New Source
Eik Haraldsdottir (Genomics England)NEK1 was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory
Added New Source
Eik Haraldsdottir (Genomics England)NEK1 was added to Thoracic dystrophiespanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Eik Haraldsdottir (Genomics England)NEK1 was added to Thoracic dystrophiespanel. Sources: Radboud University Medical Center, Nijmegen