Primary immunodeficiencyGene: GIMAP5
Comment on list classification: New gene added by Boaz Palterer. 4 unrelated families with an immunodeficiency disorder and difference biallelic LoF variants in the GIMAP5 gene. Clinical improvement in Gimap5-deficient mice and a human patient was observed following treatment with rapamycin (mTORC1 inhibitor)
Although there are sufficient cases with a relevant phenotype, rating this gene Amber while pending publication of the Park 2021 article, as information can change from the initial bioRxiv upload to peer-reviewed publication. Added 'watchlist' tag and will re-curate when the paper is published.
Created: 1 Apr 2021, 10:40 a.m. | Last Modified: 1 Apr 2021, 10:40 a.m.
Panel Version: 2.405
Park et al. (https://www.biorxiv.org/content/10.1101/2021.02.22.432146v1.full.pdf) identified biallelic mutations in GIMAP5 in 10 subjects from 4 kindreds with severe progressive
lymphopenia, autoimmunity, immunodeficiency, and liver disease
Created: 24 Feb 2021, 9:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
lymphopenia; autoimmunity; immunodeficiency; liver disease
Tag treatable tag was added to gene: GIMAP5. Tag watchlist tag was added to gene: GIMAP5.
Gene: gimap5 has been classified as Amber List (Moderate Evidence).
gene: GIMAP5 was added gene: GIMAP5 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: GIMAP5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GIMAP5 were set to lymphopenia; autoimmunity; immunodeficiency; liver disease Penetrance for gene: GIMAP5 were set to unknown Review for gene: GIMAP5 was set to RED