Fetal anomalies
Gene: PTDSS1

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.

IUGR is a feature.

Multiple families. Gain-of-function is the established or expected mechanism of disease for these variants.
Created: 22 Feb 2022, 5:41 a.m. | Last Modified: 22 Feb 2022, 5:41 a.m.

Panel Version: 0.3886

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lenz-Majewski hyperostotic dwarfism MIM#151050

Publications

Created: 22 Feb 2022, 5:41 a.m.
Last Modified: 22 Feb 2022, 5:41 a.m.
Panel version: 0.3886

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

Lenz-Majewski hyperostotic dwarfism MIM#151050

OMIM

612792

Clinvar variants

Variants in PTDSS1

Penetrance

None

Publications

Panels with this gene