Intellectual_disability
Gene: XK

XK (X-linked Kx blood group)
EnsemblGeneIds (GRCh38): ENSG00000047597
EnsemblGeneIds (GRCh37): ENSG00000047597
OMIM: 314850, Gene2Phenotype
XK is in 12 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

The original dataset from paper lists NA as a gene. However this is not an approved symbol, HGNC approved gene symbol is XK- this is in the LSDB:Mental Retardation database
Created: 3 Aug 2017, 12:56 p.m.

Created: 3 Aug 2017, 12:45 p.m.

Panel version: 0.1153

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Candidate gene (Grozeva et al, 2015)

Phenotypes

Intellectual disability

OMIM

314850

Clinvar variants

Variants in XK

Penetrance

Complete

Publications

PMID: 26350204

Panels with this gene

History Filter Activity

21 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

XK was created by ellenmcdonagh

21 Oct 2015, Gel status: 0

Added New Source