Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Inflammatory bowel disease v0.61 | CARMIL2 | Zornitza Stark Marked gene: CARMIL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inflammatory bowel disease v0.61 | CARMIL2 | Zornitza Stark Gene: carmil2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inflammatory bowel disease v0.61 | CARMIL2 | Zornitza Stark Classified gene: CARMIL2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inflammatory bowel disease v0.61 | CARMIL2 | Zornitza Stark Gene: carmil2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inflammatory bowel disease v0.60 | CARMIL2 |
Zornitza Stark gene: CARMIL2 was added gene: CARMIL2 was added to Inflammatory bowel disease. Sources: Expert Review Mode of inheritance for gene: CARMIL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CARMIL2 were set to 33723309 Phenotypes for gene: CARMIL2 were set to Early onset paediatric inflammatory bowel disease Review for gene: CARMIL2 was set to GREEN Added comment: Bi-allelic variants in this gene are associated with immunodeficiency. Four individuals from three families reported with early onset IBD. None manifested overt clinical signs of immunodeficiency before their diagnosis. Sources: Expert Review |