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| Hereditary Erythrocytosis v1.32 | JAK2 | Arina Puzriakova Phenotypes for gene: JAK2 were changed from Erythrocytosis, somatic 133100 to Erythrocytosis, somatic, OMIM:133100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis v1.16 | JAK2 | Arina Puzriakova Tag for-review was removed from gene: JAK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis v1.16 | JAK2 | Arina Puzriakova Mode of pathogenicity for gene: JAK2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis v1.15 | JAK2 | Arina Puzriakova Mode of inheritance for gene: JAK2 was changed from Unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis v1.14 | JAK2 | Arina Puzriakova reviewed gene: JAK2: Rating: RED; 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: 27389715; Phenotypes: Erythrocytosis, somatic, 133100; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis v1.12 | JAK2 | Sarah Leigh Tag for-review tag was added to gene: JAK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis v1.12 | JAK2 | Sarah Leigh Classified gene: JAK2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis v1.12 | JAK2 | Sarah Leigh Added comment: Comment on list classification: An amber rating has been given to JAK2, as only somatic variants in this gene have been reported to be associated with Erythrocytosis, somatic 133100. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis v1.12 | JAK2 | Sarah Leigh Gene: jak2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis v1.8 | JAK2 |
Sarah Leigh changed review comment from: GMS Expert list Green Sources: Expert list, NHS GMS; to: GMS Expert review Green Sources: Expert review, NHS GMS |
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| Hereditary Erythrocytosis v1.6 | JAK2 | Sarah Leigh Classified gene: JAK2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis v1.6 | JAK2 | Sarah Leigh Gene: jak2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis v1.5 | JAK2 |
Sarah Leigh gene: JAK2 was added gene: JAK2 was added to Hereditary Erythrocytosis. Sources: Expert list,NHS GMS somatic tags were added to gene: JAK2. Mode of inheritance for gene: JAK2 was set to Unknown Phenotypes for gene: JAK2 were set to Erythrocytosis, somatic 133100 Review for gene: JAK2 was set to GREEN Added comment: GMS Expert list Green Sources: Expert list, NHS GMS |
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