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| Inherited bleeding disorders v1.129 | KLKB1 | Louise Daugherty Phenotypes for gene: KLKB1 were changed from Fletcher factor (prekallikrein) deficiency, 612423; Fletcher syndrome to Fletcher factor (prekallikrein) deficiency, 612423; Fletcher syndrome; Coagulation disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.119 | KLKB1 | Louise Daugherty Classified gene: KLKB1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.119 | KLKB1 | Louise Daugherty Added comment: Comment on list classification: New gene from NIHRRD-BR BRIDGE Bleeding and Platelet Disorders project, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.119 | KLKB1 | Louise Daugherty Gene: klkb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.118 | KLKB1 |
Louise Daugherty gene: KLKB1 was added gene: KLKB1 was added to Inherited bleeding disorders. Sources: Expert list Mode of inheritance for gene: KLKB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KLKB1 were set to 17598838; 14652634; 11344577 Phenotypes for gene: KLKB1 were set to Fletcher factor (prekallikrein) deficiency, 612423; Fletcher syndrome Review for gene: KLKB1 was set to GREEN gene: KLKB1 was marked as current diagnostic Added comment: New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SCC meeting Dublin 2018. Sources: Expert list |
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