Intellectual disability update Jan 2018
Gene: NRK

NRK (Nik related kinase)
EnsemblGeneIds (GRCh38): ENSG00000123572
EnsemblGeneIds (GRCh37): ENSG00000123572
OMIM: 300791, Gene2Phenotype
NRK is in 1 panel

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

There is currently no know gene-disease association, but NRK to be a candidate gene for Marfanoid hypermobility. In Shimojima et al., 2011 PMID: 21834033 the severe developmental delay seen in a single patient Marfanoid hypermobility was not due to the large deletion (that included 5 genes, including NRK) but derived from position effect of the deletion for neighboring interleukin 1 receptor accessory protein-like 2 gene (IL1RAPL2).
Created: 27 Feb 2018, 5:16 p.m.

Created: 27 Feb 2018, 5:16 p.m.

Panel version: 0.145

Details

Sources

Expert Review Red

Phenotypes

Hypermobility syndrome
Sotos syndrome

OMIM

300791

Clinvar variants

Variants in NRK

Penetrance

None

Publications

21834033

Panels with this gene

Intellectual disability

History Filter Activity

27 Feb 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for NRK were set to 21834033

27 Feb 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for NRK were set to Hypermobility syndrome; Sotos syndrome

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NRK was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red