COVID-19 research

Gene: RELB

Red List (low evidence)

Single kindred with 3 individuals, however strong biological case that loss of function of RELB is causative

Created: 11 Jun 2018, 12:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Red List (low evidence)

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): RELB .PanelApp HGNC gene symbol check: RELB . IUIS Disease: RelB deficiency . IUIS Inheritance: AR .T cells: Decreased or normal, response to PHA may be decreased, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Recurrent infections. IUIS Major category: Immunodeficiencies affecting cellular and humoral immunity. IUIS Subcategory: Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency

Created: 2 Jul 2018, 10:35 a.m.

External expert review notes Red status, although there is strong biological evidence there is not enough unrelated cases (only one family reported Sharfe N et al, in 2015) so I have kept this gene Red on this panel

Created: 13 Jun 2018, 10 a.m.

Comment on phenotypes: added OMIM MIMid

Created: 13 Jun 2018, 9:54 a.m.

Comment on publications: changed doi into PMID

Created: 26 Apr 2018, 9:20 a.m.

Red List (low evidence)

Associated with phenotype in OMIM, not in G2P. At least one variant reported in 3 male patients from a consanguineous family of Irish descent with immunodeficiency-53.

Created: 5 Sep 2017, 10:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Immunodeficiency 53

Publications

• https://doi.org/10.14785/lpsn-2015-0005