Generalised pustular psoriasis
Gene: HLA-CEnsemblGeneIds (GRCh38): ENSG00000204525
EnsemblGeneIds (GRCh37): ENSG00000204525
OMIM: 142840, Gene2Phenotype
HLA-C is in 3 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least one variant reportedCreated: 22 Nov 2016, 4:01 p.m.
Comment on phenotypes: Also associated with {HIV-1 viremia, susceptibility to} 609423Created: 22 Nov 2016, 3:37 p.m.
Comment on mode of inheritance: OMIM reports this as multifactorialCreated: 22 Nov 2016, 3:36 p.m.
Mode of inheritance
Other
Phenotypes
{Psoriasis susceptibility 1} 177900
Details
- Mode of Inheritance
- Other - please specifiy in evaluation comments
- Sources
-
- Expert Review Red
- Other
- Phenotypes
-
- {Psoriasis susceptibility 1} 177900
- OMIM
- 142840
- Clinvar variants
- Variants in HLA-C
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 24/11/2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for HLA-C were set to {Psoriasis susceptibility 1} 177900
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for HLA-C was changed to Other - please specifiy in evaluation comments
Added New Source
Sarah Leigh (Genomics England Curator)HLA-C was added to Generalised pustular psoriasispanel. Sources: Other
Created
Sarah Leigh (Genomics England Curator)HLA-C was created by sleigh