| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral vascular malformations v2.68 | ANGPTL6 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: ANGPTL6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v2.68 | ANGPTL6 | Eleanor Williams Tag Q2_21_rating was removed from gene: ANGPTL6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v2.68 | ANGPTL6 | Eleanor Williams changed review comment from: The rating of this gene has been updated to greenfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v2.68 | ANGPTL6 | Eleanor Williams reviewed gene: ANGPTL6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v2.67 | ANGPTL6 |
Eleanor Williams Source Expert Review Green was added to ANGPTL6. Source NHS GMS was added to ANGPTL6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Cerebral vascular malformations v2.50 | ANGPTL6 | Sarah Leigh edited their review of gene: ANGPTL6: Added comment: Not associated with relevant phenotype in OMIM or Gen2Phen. At least 9 variants reported in at least 11 families with Familial Intracranial Aneurysm. Expression and secretion studies have been performed for NM_031917.2. c.1378A>T, p.Lys460Ter, showing that although it is expressed it is not secreted.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v2.50 | ANGPTL6 | Sarah Leigh Tag Q2_21_rating tag was added to gene: ANGPTL6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v2.50 | ANGPTL6 | Sarah Leigh Publications for gene: ANGPTL6 were set to 29304371; 33106390 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v2.49 | ANGPTL6 | Sarah Leigh Classified gene: ANGPTL6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v2.49 | ANGPTL6 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v2.49 | ANGPTL6 | Sarah Leigh Gene: angptl6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v2.48 | ANGPTL6 | Sarah Leigh Phenotypes for gene: ANGPTL6 were changed from Cerebral aneurysm to brain aneurysm MONDO:0005291 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v2.8 | ANGPTL6 |
Zornitza Stark gene: ANGPTL6 was added gene: ANGPTL6 was added to Cerebral vascular malformations. Sources: Literature Mode of inheritance for gene: ANGPTL6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANGPTL6 were set to 29304371; 33106390 Phenotypes for gene: ANGPTL6 were set to Cerebral aneurysm Review for gene: ANGPTL6 was set to GREEN gene: ANGPTL6 was marked as current diagnostic Added comment: Six unrelated families reported. Sources: Literature |
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