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DDG2P

Gene: NEK1

Green List (high evidence)

NEK1 (NIMA related kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000137601
EnsemblGeneIds (GRCh37): ENSG00000137601
OMIM: 604588, Gene2Phenotype
NEK1 is in 17 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

monogenic-polygenic tag added: In DD-G2P download, both biallelic and digenic MOIs listed for SHORT RIB-POLYDACTYLY SYNDORME, TYPE II 263520.
Created: 19 Nov 2018, 1:26 p.m.
Original DDG2P rating: confirmed (for all listed disorders). Multiple MOIs in DD-G2P download: biallelic and digenic.
Created: 19 Nov 2018, 11:30 a.m.

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Added Tag

Rebecca Foulger (Genomics England curator)

Tag monogenic-polygenic tag was added to gene: NEK1.

19 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes SHORT RIB-POLYDACTYLY SYNDORME, TYPE II 263520 for gene: NEK1

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: NEK1 was added gene: NEK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NEK1 were set to SHORT RIB-POLYDACTYLY SYNDORME, TYPE II 263520