DDG2P
Gene: PLS3

PLS3 (plastin 3)
EnsemblGeneIds (GRCh38): ENSG00000102024
EnsemblGeneIds (GRCh37): ENSG00000102024
OMIM: 300131, Gene2Phenotype
PLS3 is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease PLS3-related diaphragmatic hernia and body-wall defects is moderate. The allelic requirement and mutation consequence are monoallelic_X_het and altered gene product structure (PMID: 37751738). The DDG2P confidence category for the disease PLS3-related osteoporosis with fractures, OMIM:300910 is definitive. The allelic requirement and mutation consequence are monoallelic_X_hem and absent gene product;altered gene product structure;decreased gene product level (PMID: 28748388;29736964;25209159;24616189;28620780;24088043;38043102;35752817;28777485).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.

Panel Version: 5.3

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
PLS3-related osteoporosis with fractures, OMIM:300910; PLS3-related diaphragmatic hernia and body-wall defects

Publications

Created: 21 Feb 2025, 2:39 p.m.
Last Modified: 21 Feb 2025, 2:39 p.m.
Panel version: 5.3

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

PLS3-related diaphragmatic hernia and body-wall defects
PLS3-related osteoporosis with fractures, OMIM:300910

OMIM

300131

Clinvar variants

Variants in PLS3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

21 Feb 2025, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PLS3 was added gene: PLS3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PLS3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PLS3 were set to 24088043; 37751738; 29736964; 25209159; 38043102; 35752817; 24616189; 28620780; 28777485; 28748388 Phenotypes for gene: PLS3 were set to PLS3-related diaphragmatic hernia and body-wall defects; PLS3-related osteoporosis with fractures, OMIM:300910

DDG2P Gene: PLS3