| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Thoracic aortic aneurysm or dissection (GMS) v2.3 | ASPH |
Arina Puzriakova Tag Q3_22_rating was removed from gene: ASPH. Tag Q3_22_MOI was removed from gene: ASPH. Tag Q3_22_NHS_review was removed from gene: ASPH. |
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| Thoracic aortic aneurysm or dissection (GMS) v2.3 | ASPH | Arina Puzriakova reviewed gene: ASPH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v2.2 | ASPH |
Arina Puzriakova Source Expert Review Green was added to ASPH. Source NHS GMS was added to ASPH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v1.26 | ASPH | Eleanor Williams Classified gene: ASPH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.26 | ASPH | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to amber but with a recommendation for a green rating following GMS review. There are sufficient cases with a cardiac phenotype relevant to this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.26 | ASPH | Eleanor Williams Gene: asph has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.25 | ASPH |
Eleanor Williams Tag Q3_22_rating tag was added to gene: ASPH. Tag Q3_22_MOI tag was added to gene: ASPH. Tag Q3_22_NHS_review tag was added to gene: ASPH. |
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| Thoracic aortic aneurysm or dissection (GMS) v1.25 | ASPH | Eleanor Williams Phenotypes for gene: ASPH were changed from ocular features; anterior segment abnormalities; distinctive facial appearance; aortic root dilatation to Traboulsi syndrome, OMIM:601552; facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome, MONDO:0011106 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.24 | ASPH | Eleanor Williams Publications for gene: ASPH were set to PMID: 35918038 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.23 | ASPH | Eleanor Williams commented on gene: ASPH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.23 | ASPH |
Simon Thomas changed review comment from: Biallelic variants in ASPH are associated with Traboulsi syndrome Jones et al (PMID: 35918038) report seven further individuals from six apparently unrelated families identified through genetics clinics with confirmed molecular diagnoses and features consistent with Traboulsi syndrome. These patients exhibited additional cardiac, musculoskeletal and haematological features thus expanding the phenotypic spectrum of Traboulsi syndrome and demonstrating considerable overlap with Marfan syndrome. Specifically, five individuals had aortic root dilatation, with childhood onset in some, and one undergoing aortic root repair aged 47 years for severe aortic regurgitation and aortic root dilatation. Therefore ASPH should be considered for inclusion in the R125 TAAD/Marfan panel. Sources: Literature; to: Biallelic variants in ASPH are associated with Traboulsi syndrome Jones et al (PMID: 35918038) report seven further individuals from six apparently unrelated families identified through genetics clinics with confirmed molecular diagnoses and features consistent with Traboulsi syndrome. These patients exhibited additional cardiac, musculoskeletal and haematological features thus expanding the phenotypic spectrum of Traboulsi syndrome and demonstrating considerable overlap with Marfan syndrome. Specifically, five individuals had aortic root dilatation, with childhood onset in some, and one undergoing aortic root repair aged 47 years for severe aortic regurgitation and aortic root dilatation. Therefore ASPH should be considered for inclusion in the R125 TAAD/Marfan panel. Sources: Literature |
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| Thoracic aortic aneurysm or dissection (GMS) v1.23 | ASPH |
Simon Thomas gene: ASPH was added gene: ASPH was added to Thoracic aortic aneurysm and dissection. Sources: Literature Mode of inheritance for gene: ASPH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASPH were set to PMID: 35918038 Phenotypes for gene: ASPH were set to ocular features; anterior segment abnormalities; distinctive facial appearance; aortic root dilatation Penetrance for gene: ASPH were set to unknown Added comment: Biallelic variants in ASPH are associated with Traboulsi syndrome Jones et al (PMID: 35918038) report seven further individuals from six apparently unrelated families identified through genetics clinics with confirmed molecular diagnoses and features consistent with Traboulsi syndrome. These patients exhibited additional cardiac, musculoskeletal and haematological features thus expanding the phenotypic spectrum of Traboulsi syndrome and demonstrating considerable overlap with Marfan syndrome. Specifically, five individuals had aortic root dilatation, with childhood onset in some, and one undergoing aortic root repair aged 47 years for severe aortic regurgitation and aortic root dilatation. Therefore ASPH should be considered for inclusion in the R125 TAAD/Marfan panel. Sources: Literature |
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