Genes in panel
Regions in panel
Prev Next

Mendeliome

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Lenz-Majewski hyperostotic dwarfism is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial and dental anomalies, loose skin, and distal limb anomalies, particularly brachydactyly and symphalangism. Patients have multiple radiographic abnormalities due to progressive generalized hyperostosis that affects the cranium, vertebrae, and diaphyses of tubular bones, leading to severe growth retardation.

Multiple families. Gain-of-function is the established or expected mechanism of disease for these variants.
Created: 22 Feb 2022, 5:42 a.m. | Last Modified: 22 Feb 2022, 5:42 a.m.
Panel Version: 0.11063

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lenz-Majewski hyperostotic dwarfism MIM#151050

Publications

Details

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

History Filter Activity

22 Feb 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).

22 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PTDSS1 were changed from to Lenz-Majewski hyperostotic dwarfism MIM#151050

22 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PTDSS1 were set to

22 Feb 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 Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PTDSS1 was added gene: PTDSS1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PTDSS1 was set to Unknown