Aortopathy_Connective Tissue Disorders
Gene: PTDSS1EnsemblGeneIds (GRCh38): ENSG00000156471
EnsemblGeneIds (GRCh37): ENSG00000156471
OMIM: 612792, Gene2Phenotype
PTDSS1 is in 8 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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 listCreated: 13 Jul 2020, 7:23 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Lenz-Majewski hyperostotic dwarfism MIM#151050
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Lenz-Majewski hyperostotic dwarfism MIM#151050
- OMIM
- 612792
- Clinvar variants
- Variants in PTDSS1
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ptdss1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ptdss1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)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