Ectodermal dysplasia
Gene: HLA-DRAEnsemblGeneIds (GRCh38): ENSG00000204287
EnsemblGeneIds (GRCh37): ENSG00000204287
OMIM: 142860, Gene2Phenotype
HLA-DRA is in 3 panels
2 reviews
John McGrath (KCL)
This has been associated with a form of scarring alopecia in one Indian family but with no fine mapping of the locus. Amber because of the single family reports and only component features of other syndromes.Created: 22 Jun 2017, 2:59 p.m.
Rebecca Foulger (Genomics England curator)
Comment on list classification: Updated rating from Red to Amber to match expert review.Created: 13 Jul 2017, 1:30 p.m.
Orphanet used as source for HLA-DRA and Graham Little syndrome- a subtype of lichen planopilaris characterized by symptoms including progressive cicatricial (scarring) alopecia.Created: 22 Nov 2016, 5:12 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- lichen planopilaris
- progressive cicatricial (scarring) alopecia
- Graham Little syndrome
- Graham Little-Piccardi-Lassueur syndrome
- OMIM
- 142860
- Clinvar variants
- Variants in HLA-DRA
- Penetrance
- None
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: HLA-DRA was added gene: HLA-DRA was added to Ectodermal dysplasia. Sources: Expert Review Amber Mode of inheritance for gene: HLA-DRA was set to Unknown Phenotypes for gene: HLA-DRA were set to lichen planopilaris; progressive cicatricial (scarring) alopecia; Graham Little syndrome; Graham Little-Piccardi-Lassueur syndrome