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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 | CIB1 | Arina Puzriakova Tag for-review was removed from gene: CIB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 | CIB1 | Arina Puzriakova commented on gene: CIB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 | CIB1 |
Arina Puzriakova Source Expert Review Green was added to CIB1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.353 | CIB1 | Arina Puzriakova Classified gene: CIB1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.353 | CIB1 | Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.353 | CIB1 | Arina Puzriakova Gene: cib1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.352 | CIB1 | Arina Puzriakova Tag for-review tag was added to gene: CIB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.120 | CIB1 | Eleanor Williams Classified gene: CIB1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.120 | CIB1 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from Grey to Green. There are more than 3 cases with plausible disease causing variants. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.120 | CIB1 | Eleanor Williams Gene: cib1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.119 | CIB1 | Eleanor Williams reviewed gene: CIB1: Rating: ; Mode of pathogenicity: None; Publications: 30068544; Phenotypes: Epidermodysplasia verruciformis 3 #618267; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 | CIB1 |
Zornitza Stark gene: CIB1 was added gene: CIB1 was added to Primary immunodeficiency. Sources: Expert list Mode of inheritance for gene: CIB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CIB1 were set to 30068544 Phenotypes for gene: CIB1 were set to Epidermodysplasia verruciformis 3 618267; HPV infections and cancer of the skin Review for gene: CIB1 was set to GREEN Added comment: Underlying defect of innate immunity, though phenotype is dermatological. 24 individuals from 6 families reported. Part of IUIS classification 2019. Sources: Expert list |
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