| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aortopathy_Connective Tissue Disorders v1.90 | ASPH | Zornitza Stark Marked gene: ASPH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.90 | ASPH | Zornitza Stark Gene: asph has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.90 | ASPH | Zornitza Stark Classified gene: ASPH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.90 | ASPH | Zornitza Stark Gene: asph has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.89 | ASPH |
Zornitza Stark gene: ASPH was added gene: ASPH was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list Mode of inheritance for gene: ASPH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASPH were set to 35918038 Phenotypes for gene: ASPH were set to Traboulsi syndrome, MIM #601552 Review for gene: ASPH was set to GREEN Added comment: PMID: 35918038 reports 7 individuals from 6 families (patients 2 and 3 related) with homozygous or compound het variants in ASPH. All presented initially with ocular phenotypes and had characteristic facial features seen in Traboulsi syndrome, but 5 individuals from 4 families were additionally found to have aortic dilatation as part of their clinical characteristics. Sources: Expert list |
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