Activity
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6 actions
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| Familial pulmonary fibrosis v1.25 | ACD | Ivone Leong Added comment: Comment on list classification: New gene added by Øystein Holla (Telemark Hospital Trust). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. After discussion with the Genomics England Clinical Team this gene has been given an Amber rating until more evidence is available due to unaffected heterozygotes reported in PMID: 33446513. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.13 | FARSB | Arina Puzriakova changed review comment from: Comment on list classification: Following consultation with Helen Brittain (Genomics England Clinical Team), it was agreed that there is sufficient evidence/number of cases with the relevant phenotype to rate this gene Green at the next GMS panel update.; to: Comment on list classification: Following consultation with Helen Brittain (Genomics England Clinical Team), it was agreed that there is sufficient evidence/number of cases with the relevant phenotype to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.11 | FARSB | Arina Puzriakova changed review comment from: Comment on list classification: Rating Green following consultation with the clinical team - sufficient number of cases with the relevant phenotype.; to: Comment on list classification: Following consultation with Helen Brittain (Genomics England Clinical Team), it was agreed that there is sufficient evidence/number of cases with the relevant phenotype to rate this gene Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis | ENG | Philip Molyneaux reviewed ENG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis | ENG | Alice Gardham marked ENG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis | ENG | Alice Gardham commented on ENG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||