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| Inherited bleeding disorders v1.145 | GBA | Louise Daugherty commented on gene: GBA: Update from NIHRRD-BR BRIDGE they will no longer be reporting on this gene on their platform. After discussion with Genomics England Clinical team, as the MOI is listed as biallelic so we would only prioritise variants that are homozygous or compound het. A parent might be found to be a carrier, when their child has the condition but that is to be expected and would be useful information. Gaucher is associated with haematological manifestations as part of the wider syndromic phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.142 | ENG | Louise Daugherty Classified gene: ENG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.142 | ENG | 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 v1.142 | ENG | Louise Daugherty Gene: eng has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.141 | ENG | Louise Daugherty Added comment: Comment on publications: Added publications suggested to support upgrading of the gene to Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.141 | ENG | Louise Daugherty Publications for gene: ENG were set to 9245986 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.140 | ENG | Louise Daugherty Phenotypes for gene: ENG were changed from Telangiectasia, hereditary hemorrhagic, type 1, 187300 to Telangiectasia, hereditary hemorrhagic, type 1, 187300; Bleeding disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited bleeding disorders v1.139 | ENG |
Louise Daugherty gene: ENG was added gene: ENG was added to Inherited bleeding disorders. Sources: Expert list Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ENG were set to 9245986 Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1, 187300 Review for gene: ENG was set to GREEN 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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