This Panel is marked as Internal
Intellectual disability update Jan 2018
Gene: NKAP
NKAP (NFKB activating protein)
EnsemblGeneIds (GRCh38): ENSG00000101882
EnsemblGeneIds (GRCh37): ENSG00000101882
OMIM: 300766, Gene2Phenotype
NKAP is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000101882
EnsemblGeneIds (GRCh37): ENSG00000101882
OMIM: 300766, Gene2Phenotype
NKAP is in 2 panels
1 review
Louise Daugherty (Genomics England Curator)
Comment on publications: Candidate gene suggested by Grozeva et al, (2015) PMID: 26350204Created: 28 Feb 2018, 4:55 p.m.
Comment on publications: added recent paper Hackmann K et al., 2016 (PMID: 26358559). A recent analysis of s small cohort with a clinical diagnosis of Lujan-Fryns syndrome (LFS) comprised of X-linked intellectual disability (XLID) with marfanoid habitus. X-exome sequencing of four individuals revealed private or non-recurrent mutations in NKAP and LAS1L in one patient each.Created: 28 Feb 2018, 4:54 p.m.
This is a candidate intellectual disability gene from Grozeva et al, (2015) PMID: 26350204, however no evidence to date has been found to support the association between variants of this gene and an observed intellectual disability phenotype.Created: 28 Feb 2018, 4:47 p.m.
Details
- Sources
-
- Expert Review Red
- OMIM
- 300766
- Clinvar variants
- Variants in NKAP
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
28 Feb 2018, Gel status: 1
Set publications
Louise Daugherty (Genomics England Curator)Publications for NKAP were set to 26358559; 26350204
28 Feb 2018, Gel status: 1
Set publications
Louise Daugherty (Genomics England Curator)Publications for NKAP were set to 26358559
18 Dec 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)NKAP was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red
18 Dec 2017, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)NKAP was created by Ellen McDonagh