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  2. Cutis Laxa
  3. PTDSS1
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Cutis Laxa

Gene: PTDSS1

Green List (high evidence)
PTDSS1 (phosphatidylserine synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000156471
EnsemblGeneIds (GRCh37): ENSG00000156471
OMIM: 612792, Gene2Phenotype
PTDSS1 is in 8 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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
Created: 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

Created: 13 Jul 2020, 7:23 a.m.

Panel version: Imported from Aortopathy_Connective Tissue Disorders panel version 0.159

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • GeneReviews
Phenotypes
  • Lenz-Majewski hyperostotic dwarfism MIM#151050
OMIM
612792
Clinvar variants
Variants in PTDSS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ptdss1 has been classified as Green List (High Evidence).

15 Oct 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PTDSS1 were set to

15 Oct 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PTDSS1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

10 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: PTDSS1 was added gene: PTDSS1 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews Mode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTDSS1 were set to Lenz-Majewski hyperostotic dwarfism MIM#151050