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| Aortopathy_Connective Tissue Disorders v0.160 | PTDSS1 | Zornitza Stark Marked gene: PTDSS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.160 | PTDSS1 | Zornitza Stark Gene: ptdss1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.160 | PTDSS1 | Bryony Thompson Classified gene: PTDSS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.160 | PTDSS1 | Bryony Thompson Gene: ptdss1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.159 | PTDSS1 |
Bryony Thompson gene: PTDSS1 was added gene: PTDSS1 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list Mode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTDSS1 were set to 24241535; 29341480; 31403251 Phenotypes for gene: PTDSS1 were set to Lenz-Majewski hyperostotic dwarfism MIM#151050 Mode of pathogenicity for gene: PTDSS1 was set to Other Review for gene: PTDSS1 was set to GREEN Added comment: 9 unrelated patients with cutis laxa as a prominent feature of a syndromic phenotype, with 5 different de novo (or assumed de novo) heterozygous missense mutations. Gain-of-function is the established or expected mechanism of disease for these variants. Sources: Expert list |
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