Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v4.109 | GIMAP5 | Achchuthan Shanmugasundram Publications for gene: GIMAP5 were set to 33956074 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v4.108 | GIMAP5 | Achchuthan Shanmugasundram reviewed gene: GIMAP5: Rating: AMBER; Mode of pathogenicity: None; Publications: 29382851, 33956074; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 | GIMAP5 | Hannah Knight reviewed gene: GIMAP5: Rating: AMBER; Mode of pathogenicity: None; Publications: 33956074; Phenotypes: Portal hypertension, noncirrhotic, 2, MIM# 619463; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.457 | GIMAP5 | Arina Puzriakova Phenotypes for gene: GIMAP5 were changed from lymphopenia; autoimmunity; immunodeficiency; liver disease to Portal hypertension, noncirrhotic, 2, OMIM:619463; lymphopenia; autoimmunity; immunodeficiency; liver disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.456 | GIMAP5 | Arina Puzriakova Publications for gene: GIMAP5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.455 | GIMAP5 | Arina Puzriakova commented on gene: GIMAP5: Cannot access new publication identified by Zornitza Stark (PMID:33956074) - free text will be available from 05/01/2022. OMIM entry states that "some patients may have recurrent infections or features suggestive of an immunodeficiency" but it is unclear how many individuals were affected and to what extent. Liver dysfunction (portal hypertension, liver failure) seems to be the more prominent phenotype in these cases but currently there are no relevant PanelApp panels for this. Therefore, I will maintain the Amber rating at this time, until publications become available or further evidence emerges. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.452 | GIMAP5 | Zornitza Stark reviewed gene: GIMAP5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33956074; Phenotypes: Portal hypertension, noncirrhotic, 2, MIM# 619463; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.405 | GIMAP5 |
Arina Puzriakova Tag treatable tag was added to gene: GIMAP5. Tag watchlist tag was added to gene: GIMAP5. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.405 | GIMAP5 | Arina Puzriakova Classified gene: GIMAP5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.405 | GIMAP5 |
Arina Puzriakova Added comment: 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. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.405 | GIMAP5 | Arina Puzriakova Gene: gimap5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.401 | GIMAP5 |
Boaz Palterer 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 Added comment: 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 Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||