| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mackenzie's Mission_Reproductive Carrier Screening v0.44 | IL10RB | Seb Lunke Marked gene: IL10RB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.44 | IL10RB | Seb Lunke Gene: il10rb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.44 | IL10RB | Seb Lunke Classified gene: IL10RB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.44 | IL10RB | Seb Lunke Gene: il10rb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | IL10RB |
Sarah Righetti changed review comment from: Sufficient patients reported (note protein encoded by IL10RB is IL10R2) 19890111: 2 affected sibs with hom stop-gain. 22549091: 8 patients - although a couple where the pathogenicity is in doubt, sufficient overall evidence. Note patient 1 and patient 2 (siblings sharing the same homozygous mutation) had different disease severity) - likely to be other factors which contribute to phenotype. Severe phenotype.; to: Sufficient patients reported (note protein encoded by IL10RB is IL10R2) 19890111: 2 affected sibs with hom stop-gain. 22549091: 8 patients - although a couple where the pathogenicity is in doubt, sufficient overall evidence. Note patient 1 and patient 2 (siblings sharing the same homozygous mutation) had different disease severity - likely to be other factors which contribute to phenotype. Severe phenotype. |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | IL10RB | Sarah Righetti Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | IL10RB |
Sarah Righetti commented on gene: IL10RB: Sufficient patients reported (note protein encoded by IL10RB is IL10R2) 19890111: 2 affected sibs with hom stop-gain. 22549091: 8 patients - although a couple where the pathogenicity is in doubt, sufficient overall evidence. Note patient 1 and patient 2 (siblings sharing the same homozygous mutation) had different disease severity) - likely to be other factors which contribute to phenotype. Severe phenotype. |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | IL10RB | Sarah Righetti reviewed gene: IL10RB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19890111, 22549091; Phenotypes: Inflammatory bowel disease 25, early onset, autosomal recessive, MIM#612567; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | IL10RB | Sarah Righetti Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | IL10RB |
Sarah Righetti gene: IL10RB was added gene: IL10RB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: IL10RB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL10RB were set to 22549091 Phenotypes for gene: IL10RB were set to Inflammatory bowel disease 25, early onset, #MIM612657 Review for gene: IL10RB was set to GREEN Added comment: Sources: Expert Review |
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