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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. NEK2
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: NEK2

Amber List (moderate evidence)
NEK2 (NIMA related kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000117650
EnsemblGeneIds (GRCh37): ENSG00000117650
OMIM: 604043, Gene2Phenotype
NEK2 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

One homozygote reported with zebrafish model (PMID: 24043777)
Created: 7 Feb 2020, 10:47 a.m. | Last Modified: 7 Feb 2020, 10:47 a.m.
Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Retinitis pigmentosa 67 MIM#615565

Publications

Created: 7 Feb 2020, 10:47 a.m.
Last Modified: 7 Feb 2020, 10:47 a.m.
Panel version: 0.11

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Amber
Phenotypes
  • ?Retinitis pigmentosa 67, 615565
OMIM
604043
Clinvar variants
Variants in NEK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: NEK2 was added gene: NEK2 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital Mode of inheritance for gene: NEK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEK2 were set to 24043777 Phenotypes for gene: NEK2 were set to ?Retinitis pigmentosa 67, 615565