Pharmacogenomics_Paediatric
Gene: HLA-A
HLA-A (major histocompatibility complex, class I, A)
EnsemblGeneIds (GRCh38): ENSG00000206503
EnsemblGeneIds (GRCh37): ENSG00000206503
OMIM: 142800, Gene2Phenotype
HLA-A is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000206503
EnsemblGeneIds (GRCh37): ENSG00000206503
OMIM: 142800, Gene2Phenotype
HLA-A is in 2 panels
2 reviews
David Metz (Royal Children's Hospital)
PMID 29392710
HLA-A*31:01 positive: Greater risk of carbamazepine-induced SJS/TEN, DRESS, and MPE (maculopapular exanthema)Created: 14 Aug 2020, 3 a.m. | Last Modified: 14 Aug 2020, 4:04 a.m.
Panel Version: 0.33
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
HLA-A*3101
Sources: Expert listCreated: 31 Jul 2020, 10:15 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Carbamazepine
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Carbamazepine
- OMIM
- 142800
- Clinvar variants
- Variants in HLA-A
- Penetrance
- None
- Panels with this gene
History Filter Activity
31 Jul 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hla-a has been classified as Green List (High Evidence).
31 Jul 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hla-a has been classified as Green List (High Evidence).
31 Jul 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: HLA-A was added gene: HLA-A was added to Pharmacogenomics_Paediatric. Sources: Expert list Mode of inheritance for gene: HLA-A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HLA-A were set to Carbamazepine Review for gene: HLA-A was set to GREEN