Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 | IVNS1ABP | Arina Puzriakova Tag watchlist tag was added to gene: IVNS1ABP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 | IVNS1ABP | Arina Puzriakova Classified gene: IVNS1ABP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 | IVNS1ABP | Arina Puzriakova Added comment: Comment on list classification: Rating Amber in view of the possibility of incomplete penetrance, and uninformative segregation analysis in 2/3 cases. Awaiting additional publications/clinical evidence to validate association (added to watchlist). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 | IVNS1ABP | Arina Puzriakova Gene: ivns1abp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.183 | IVNS1ABP | Arina Puzriakova Tag for-review was removed from gene: IVNS1ABP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.183 | IVNS1ABP | Arina Puzriakova Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.183 | IVNS1ABP | Arina Puzriakova edited their review of gene: IVNS1ABP: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.179 | IVNS1ABP | Arina Puzriakova Tag for-review tag was added to gene: IVNS1ABP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.179 | IVNS1ABP | Arina Puzriakova Phenotypes for gene: IVNS1ABP were changed from primary immunodeficiency to Immunodeficiency 70, MIM#618969 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.178 | IVNS1ABP | Arina Puzriakova Publications for gene: IVNS1ABP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.177 | IVNS1ABP | Arina Puzriakova Mode of inheritance for gene: IVNS1ABP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.176 | IVNS1ABP | Arina Puzriakova Classified gene: IVNS1ABP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.176 | IVNS1ABP | Arina Puzriakova Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.176 | IVNS1ABP | Arina Puzriakova Gene: ivns1abp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.175 | IVNS1ABP | Arina Puzriakova reviewed gene: IVNS1ABP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32499645; Phenotypes: Immunodeficiency 70, 618969; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.175 | IVNS1ABP | Zornitza Stark reviewed gene: IVNS1ABP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32499645; Phenotypes: Immunodeficiency 70, MIM#618969; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.175 | IVNS1ABP | Sarah Leigh reviewed gene: IVNS1ABP: Rating: RED; Mode of pathogenicity: ; Publications: https://doi.org/10.1101/499988; Phenotypes: primary immunodeficiency; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.174 | IVNS1ABP |
Sarah Leigh gene: IVNS1ABP was added gene: IVNS1ABP was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: IVNS1ABP was set to Unknown Phenotypes for gene: IVNS1ABP were set to primary immunodeficiency |