Rare anaemia

Gene: XK

Green List (high evidence)

XK (X-linked Kx blood group)
EnsemblGeneIds (GRCh38): ENSG00000047597
EnsemblGeneIds (GRCh37): ENSG00000047597
OMIM: 314850, Gene2Phenotype
XK is in 8 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be Green.
Created: 22 Jul 2019, 3:36 p.m. | Last Modified: 22 Jul 2019, 3:36 p.m.
Panel Version: 0.59
Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: XK; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300842 McLeod syndrome; PMID(s): 17683354; 11761473
Created: 8 Feb 2019, 3:49 p.m.

Frances Smith (King's College Hospital)

Green List (high evidence)

Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.
Created: 8 Feb 2019, 3:46 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
300842 McLeod syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
  • London South GLH
Phenotypes
  • 300842 McLeod syndrome
OMIM
314850
Clinvar variants
Variants in XK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jul 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: xk has been classified as Green List (High Evidence).

8 Feb 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to XK. Mode of inheritance for gene XK was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes 300842 McLeod syndrome for gene: XK Rating Changed from Red List (low evidence) to Green List (high evidence)

8 Feb 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes 300842 McLeod syndrome for gene: XK Publications for gene XK were changed from to 17683354; 11761473

8 Feb 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to XK.

8 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: XK was added gene: XK was added to Rare anaemia. Sources: London South GLH Mode of inheritance for gene: XK was set to