Primary immunodeficiencyGene: GIMAP6
Comment on list classification: New gene added by Boaz Palterer. Biallelic variant identified in a patient with lymphopenia and recurrent infections. The same variant was detected in an asymptomatic older sibling and although authors state that GIMAP6 was the best candidate to explain the clinical phenotype in the affected individual, homozygous variants were also identified in 8 other genes (PMID: 33328581). Therefore, there is only enough evidence for a Red rating at present.
Created: 4 Jan 2021, 12:47 p.m. | Last Modified: 4 Jan 2021, 12:48 p.m.
Panel Version: 2.388
Two siblings with an homozygous variant in GIMAP6 and absent protein expression. One with lymphopenia and recurrent sinopulmonary infections, the other clinically asymptomatic.
Created: 18 Dec 2020, 6:45 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Lymphopenia; Sinopulmonary Infections
Gene: gimap6 has been classified as Red List (Low Evidence).
gene: GIMAP6 was added gene: GIMAP6 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: GIMAP6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GIMAP6 were set to 33328581 Phenotypes for gene: GIMAP6 were set to Lymphopenia; Sinopulmonary Infections Penetrance for gene: GIMAP6 were set to unknown Review for gene: GIMAP6 was set to RED