| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Defects of intrinsic and innate immunity v0.49 | CLCN7 | Bryony Thompson Marked gene: CLCN7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of intrinsic and innate immunity v0.49 | CLCN7 | Bryony Thompson Gene: clcn7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of intrinsic and innate immunity v0.49 | CLCN7 | Bryony Thompson Classified gene: CLCN7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of intrinsic and innate immunity v0.49 | CLCN7 | Bryony Thompson Gene: clcn7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of intrinsic and innate immunity v0.48 | CLCN7 |
Bryony Thompson gene: CLCN7 was added gene: CLCN7 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLCN7 were set to 11207362; 15231021; 17033731; 19507210; 32048120 Phenotypes for gene: CLCN7 were set to Osteopetrosis, autosomal recessive 4 MIM#611490 Review for gene: CLCN7 was set to GREEN Added comment: At least 4 unrelated cases reported, and a supporting mouse model. Impaired osteoclast (derived from myeloid/monocyte lineage) function is a feature of the condition. Sources: Expert list |
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