Newborns main panel

Gene: IRF2BP2

The mechanism of pathogenicity is gain-of-function (GOF).

Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

PMID: 27016798 - 1 family

Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

Limited gene-disease association according to ClinGen (march 2021). One missense variant (Ser551Asn) has been reported in one proband in one publication (PMID: 27016798), segregating in two additional affected family members. An additional patient with the IRF2BP2 c.1180A>C; p.Thr394Pro variant has been reported in an individual affected with CIVD in an abstract for the American college of allergy, asthma & immunology 2018 annual scientific meeting (Joseph 2018; https://doi.org/10.1016/j.anai.2018.09.308) As for MOP I think this is GOF not LOF as in the proband in the first publication they saw higher expression of IRF2BP2 than WT? Also I would say not to go through LOF prioritisation since no truncating variants anyway? -> DB: Changed to GOF. But note that this is a category 3 gene so will not be on the list. Need at least 3 families and based on what you found there are only 2

Created: 17 May 2023, 1:42 p.m. | Last Modified: 17 May 2023, 1:42 p.m.

Panel Version: 0.83