Rare anaemia
Gene: XKEnsemblGeneIds (GRCh38): ENSG00000047597
EnsemblGeneIds (GRCh37): ENSG00000047597
OMIM: 314850, Gene2Phenotype
XK is in 12 panels
2 reviews
Louise Daugherty (Genomics England Curator)
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; 11761473Created: 8 Feb 2019, 3:49 p.m.
Frances Smith (King's College Hospital)
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
-
- McLeod syndrome with or without chronic granulomatous disease, OMIM:300842
- McLeod neuroacanthocytosis syndrome, MONDO:0018945
- OMIM
- 314850
- Clinvar variants
- Variants in XK
- Penetrance
- None
- Publications
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Cytopenias and congenital anaemias
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- Early onset dystonia
- Rare anaemia
- Dilated Cardiomyopathy and conduction defects
- Early onset or syndromic epilepsy
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: XK were changed from McLeod syndrome with or without chronic granulomatous disease,OMIM:300842 to McLeod syndrome with or without chronic granulomatous disease, OMIM:300842; McLeod neuroacanthocytosis syndrome, MONDO:0018945
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: XK were changed from 300842 McLeod syndrome to McLeod syndrome with or without chronic granulomatous disease,OMIM:300842
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: xk has been classified as Green List (High Evidence).
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)
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
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to XK.
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