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Primary immunodeficiency

Gene: POU2AF1

Red List (low evidence)

POU2AF1 (POU class 2 associating factor 1)
EnsemblGeneIds (GRCh38): ENSG00000110777
EnsemblGeneIds (GRCh37): ENSG00000110777
OMIM: 601206, Gene2Phenotype
POU2AF1 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Boaz Palterer. Single patient described in PMID: 33571536 with agammaglobulinemia and a homozygous POU2AF1 variant (c.233delC, p.Thr78Lysfs∗63) supported by functional data. Rating Red, awaiting further evidence.
Created: 1 Apr 2021, 10:51 a.m. | Last Modified: 1 Apr 2021, 10:51 a.m.
Panel Version: 2.406

Boaz Palterer (University of Florence)

Red List (low evidence)

Kury et al. described a single patient from consanguineous parents carrying a homozygous frameshift mutation in POU2AF1, encoding for Bob1, presenting with agammaglobulinemia with normal B cells. Functional data showed that Bob1 deficiency ex vivo and in a mouse KO model reduced B-cell responsiveness, impaired plasmablast formation and immunoglobulin secretion.
Sources: Literature
Created: 24 Feb 2021, 10:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Agammaglobulinemia; Immunodeficiency; Bob1 deficiency

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Agammaglobulinemia
  • Immunodeficiency
  • Bob1 deficiency
OMIM
601206
Clinvar variants
Variants in POU2AF1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

1 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: pou2af1 has been classified as Red List (Low Evidence).

24 Feb 2021, Gel status: 0

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

Boaz Palterer (University of Florence)

gene: POU2AF1 was added gene: POU2AF1 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: POU2AF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POU2AF1 were set to 33571536 Phenotypes for gene: POU2AF1 were set to Agammaglobulinemia; Immunodeficiency; Bob1 deficiency Penetrance for gene: POU2AF1 were set to unknown Review for gene: POU2AF1 was set to RED