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| Bone Marrow Failure v1.91 | ETV6 | Santosh Varughese reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25581430, 25807284; Phenotypes: Thrombocytopenia 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.32 | ETV6 | Zornitza Stark Marked gene: ETV6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.32 | ETV6 | Zornitza Stark Gene: etv6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.32 | ETV6 | Zornitza Stark Classified gene: ETV6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.32 | ETV6 | Zornitza Stark Gene: etv6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.31 | ETV6 |
Zornitza Stark gene: ETV6 was added gene: ETV6 was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: ETV6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ETV6 were set to 25581430; 25807284 Phenotypes for gene: ETV6 were set to Thrombocytopenia 5, MIM# 616216 Review for gene: ETV6 was set to GREEN gene: ETV6 was marked as current diagnostic Added comment: At least 6 unrelated families reported. Sources: Expert list |
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