| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Thoracic aortic aneurysm or dissection v1.112 | ADAMTSL4 | Ivone Leong Phenotypes for gene: ADAMTSL4 were changed from to Ectopia lentis et pupillae; Ectopia lentis, isolated, autosomal recessive | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.111 | ADAMTSL4 | Ivone Leong Classified gene: ADAMTSL4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.111 | ADAMTSL4 | Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green based on expert review from Ellen Thomas (Genomics England Curator). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.111 | ADAMTSL4 | Ivone Leong Gene: adamtsl4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.110 | ADAMTSL4 | Ellen Thomas reviewed gene: ADAMTSL4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectopia lentis et pupillae, Ectopia lentis, isolated, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.91 | ADAMTSL4 | Ellen McDonagh Classified gene: ADAMTSL4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.91 | ADAMTSL4 | Ellen McDonagh Added comment: Comment on list classification: This gene has been added to this panel initially as Red, and is awaiting clinical judgement as to whether this should be included diagnostically on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.91 | ADAMTSL4 | Ellen McDonagh Gene: adamtsl4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.84 | ADAMTSL4 |
Simon Thomas gene: ADAMTSL4 was added gene: ADAMTSL4 was added to Thoracic aortic aneurysm or dissection. Sources: UKGTN Mode of inheritance for gene: ADAMTSL4 was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: ADAMTSL4 was set to GREEN Added comment: ADAMTSL4 is not currently available as a green gene on any panel. It is red in both the Craniosynostosis and Cataracts panels. In OMIM it is associated with Ectopia lentis (isolated and et pupillae). There may be an argument for including this on the panel as a differential diagnosis for Marfan syndrome (although there are no cardiac features), particularly as the test for Marfan syndrome has been amalgamted with TAAD in the Test directory. The gene is included in the Wessex UKGTN TAAD panel and to date we have identified six homozygous cases of c.767_786del and one compound heterozygote. Four were referred for Marfan syndrome and specifically requested FBN1 testing. Sources: UKGTN |
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