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  3. NEK1
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Fetal anomalies

Gene: NEK1

Green List (high evidence)
NEK1 (NIMA related kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000137601
EnsemblGeneIds (GRCh37): ENSG00000137601
OMIM: 604588, Gene2Phenotype
NEK1 is in 16 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Comment on phenotypes: The 'SHORT RIB-POLYDACTYLY SYNDORME, TYPE II' phenotype comes from Gene2Phenotype. Added 'Short rib-polydactyly Syndrome', together with MIM:263520 so the correct spelling is present for search purposes.
Created: 30 Apr 2019, 1:08 p.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for SHORT RIB-POLYDACTYLY SYNDORME, TYPE II
Created: 11 Dec 2018, 9:05 a.m.
Added 'polygenic' tag because NEK1 listed as digenic (and biallelic) for SHORT RIB-POLYDACTYLY SYNDORME, TYPE II in original PAGE file.
Created: 8 Nov 2018, 5 p.m.
Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.134

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SHORT RIB-POLYDACTYLY SYNDORME, TYPE II
  • SHORT RIB-POLYDACTYLY SYNDROME, TYPE II
  • Short-rib thoracic dysplasia 6 with or without polydactyly, 263520
Tags
polygenic
OMIM
604588
Clinvar variants
Variants in NEK1
Penetrance
None
Panels with this gene

History Filter Activity

30 Apr 2019, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: NEK1 were changed from SHORT RIB-POLYDACTYLY SYNDORME, TYPE II to SHORT RIB-POLYDACTYLY SYNDORME, TYPE II; SHORT RIB-POLYDACTYLY SYNDROME, TYPE II; Short-rib thoracic dysplasia 6 with or without polydactyly, 263520

8 Nov 2018, Gel status: 4

Added Tag

Rebecca Foulger (Genomics England curator)

Tag polygenic tag was added to gene: NEK1.

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

8 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 Fetal anomalies. Sources: Expert Review Green,PAGE 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