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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