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  2. Disorders of immune dysregulation
  3. RHBDF2
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Disorders of immune dysregulation

Gene: RHBDF2

Green List (high evidence)
RHBDF2 (rhomboid 5 homolog 2)
EnsemblGeneIds (GRCh38): ENSG00000129667
EnsemblGeneIds (GRCh37): ENSG00000129667
OMIM: 614404, Gene2Phenotype
RHBDF2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

4 individuals from 2 families with LoF variants in this gene and recurrent infections. Functional data including mouse model.

Note mono allelic (missense) variants in this gene are associated with tylosis.
Sources: Literature
Created: 24 Jan 2022, 4:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pneumonia; Colitis; Immunodeficiency

Publications

Created: 24 Jan 2022, 4:51 a.m.

Panel version: 0.101

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pneumonia
  • Colitis
  • Immunodeficiency
OMIM
614404
Clinvar variants
Variants in RHBDF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rhbdf2 has been classified as Green List (High Evidence).

24 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rhbdf2 has been classified as Green List (High Evidence).

24 Jan 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RHBDF2 was added gene: RHBDF2 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: RHBDF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RHBDF2 were set to 34937930 Phenotypes for gene: RHBDF2 were set to Pneumonia; Colitis; Immunodeficiency Review for gene: RHBDF2 was set to GREEN