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Primary immunodeficiency

Gene: RHBDF2

No list

RHBDF2 (rhomboid 5 homolog 2)
EnsemblGeneIds (GRCh38): ENSG00000129667
EnsemblGeneIds (GRCh37): ENSG00000129667
OMIM: 614404, Gene2Phenotype
RHBDF2 is in 4 panels

1 review

Boaz Palterer (University of Florence)

Red List (low evidence)

iRHOM deficiency with Respiratory and Intestinal inflammation and cytokine Secretion defect’ (IRIS): Kubo et al. ( described a new immunodeficiency disease due to loss-of-function mutations in RHBDF2, the gene encoding iRHOM2, in 4 subjects across two kindreds with recurrent infections in different organs. The disease presentation is pleiotropic, with one patient with recurrent pneumonia but no colon involvement, another had recurrent infectious hemorrhagic colitis but no lung involvement and the other two experienced recurrent respiratory infections. They replicated the phenotype in a KO mouse model and provided functional data.
Sources: Literature
Created: 23 Dec 2021, 9:18 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Pneumonia; Colitis; Immunodeficiency


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Pneumonia
  • Colitis
  • Immunodeficiency
Clinvar variants
Variants in RHBDF2
Panels with this gene

History Filter Activity

23 Dec 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set penetrance

Boaz Palterer (University of Florence)

gene: RHBDF2 was added gene: RHBDF2 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: RHBDF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RHBDF2 were set to Pneumonia; Colitis; Immunodeficiency Penetrance for gene: RHBDF2 were set to unknown Review for gene: RHBDF2 was set to RED