Pneumothorax - familial

Gene: HLA-DRB1

Red List (low evidence)

HLA-DRB1 (major histocompatibility complex, class II, DR beta 1)
EnsemblGeneIds (GRCh38): ENSG00000196126
EnsemblGeneIds (GRCh37): ENSG00000196126
OMIM: 142857, Gene2Phenotype
HLA-DRB1 is in 6 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: HLA-DRB1; Suggested initial gene rating: Amber; Evidence for inclusion: Risk factor for sarcoidosis/lung disease reported.; Evidence for exclusion: Non-Mendelian, association not well established.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): HLA region - conventional sequencing difficult due to complexity/homogeneity/mapping issues.
Created: 6 Dec 2018, 2:37 p.m.

History Filter Activity

6 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: HLA-DRB1 was added gene: HLA-DRB1 was added to Pneumothorax - familial. Sources: NHS GMS Mode of inheritance for gene: HLA-DRB1 was set to