| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.500 | CARD10 | Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Zornitza Stark. Rating Red at present only a single family has been reported as affected by immunodeficiency with autoimmunity due to a homozygoys variant in this gene (PMID: 32238915); to: Comment on list classification: New gene added by Zornitza Stark. Rating Red as at present only a single family has been reported as affected by immunodeficiency with autoimmunity due to a homozygoys variant in this gene (PMID: 32238915) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.500 | CARD10 | Arina Puzriakova Classified gene: CARD10 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.500 | CARD10 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Rating Red at present only a single family has been reported as affected by immunodeficiency with autoimmunity due to a homozygoys variant in this gene (PMID: 32238915) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.500 | CARD10 | Arina Puzriakova Gene: card10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.499 | CARD10 | Arina Puzriakova Phenotypes for gene: CARD10 were changed from Immunodeficiency 89 and autoimmunity, MIM# 619632 to Immunodeficiency 89 and autoimmunity, OMIM:619632 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.498 | CARD10 |
Zornitza Stark gene: CARD10 was added gene: CARD10 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: CARD10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CARD10 were set to 32238915 Phenotypes for gene: CARD10 were set to Immunodeficiency 89 and autoimmunity, MIM# 619632 Review for gene: CARD10 was set to RED Added comment: A pair of siblings reported with adult onset of recurrent infections, allergies, microcytic anaemia, and Crohn disease. Homozygous missense variant. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||