| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.129 | ERBIN | Catherine Snow Classified gene: ERBIN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.129 | ERBIN | Catherine Snow Added comment: Comment on list classification: Promoted from Red to Amber based on expert review. Only one family identified and functional studies so will remain Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.129 | ERBIN | Catherine Snow Gene: erbin has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 | ERBIN | Zornitza Stark reviewed gene: ERBIN: Rating: AMBER; Mode of pathogenicity: None; Publications: 28126831; Phenotypes: Recurrent respiratory infections, Susceptibility to S.aureus, Eczema, Hyperextensible joints, Scoliosis, Arterial dilatation in some; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | ERBIN | Louise Daugherty edited their review of gene: ERBIN: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 28126831 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | ERBIN | Louise Daugherty Publications for gene ERBIN were updated from 32086639; 32048120 to 28126831; 32086639; 32048120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 | ERBIN | Louise Daugherty commented on gene: ERBIN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 | ERBIN | Louise Daugherty Tag new-gene-name tag was added to gene: ERBIN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 | ERBIN |
Louise Daugherty gene: ERBIN was added gene: ERBIN was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: ERBIN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ERBIN were set to 32086639; 32048120 Phenotypes for gene: ERBIN were set to ERBIN deficiency; Combined immunodeficiencies with associated or syndromic features; Recurrent respiratory infections, susceptibility to S. aureus, eczema, hyperextensible joints, scoliosis, arterial dilatation in some |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||