Newborns main panel
Gene: PLS3

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Removing special_consideration tag as the MOI has been updated and therefore this no longer required.
Created: 20 Nov 2024, 2:40 p.m. | Last Modified: 20 Nov 2024, 2:40 p.m.

Panel Version: 0.470

Special Consideration: Awareness.

Additional Information: Report only males.

The MOI will be updated from 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' to 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' at the next resource release.

It was set to XLD to match the MOI in OMIM, but it has since been confirmed with the Genomics England Newborns Clinical Team that the MOI should be changed as above, as females should not be reported as part of the Generation Study.
Created: 26 Sep 2024, 4:04 p.m. | Last Modified: 26 Sep 2024, 4:04 p.m.

Panel Version: 0.469

Created: 26 Sep 2024, 4:04 p.m.
Last Modified: 26 Sep 2024, 4:04 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

https://pubmed.ncbi.nlm.nih.gov/35752817/ PMID: 32655496 (4 families)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

Only report males?
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.

Panel Version: 0.133

MOI reviewed by clinical team.
Created: 10 Mar 2023, 11:21 a.m. | Last Modified: 10 Mar 2023, 11:21 a.m.

Panel Version: 0.42

Phenotypes
Bone mineral density QTL18, osteoporosis

Created: 10 Mar 2023, 11:21 a.m.
Last Modified: 10 Mar 2023, 11:21 a.m.
Panel version: 0.137

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green

Phenotypes

Bone mineral density QTL18, osteoporosis

OMIM

300131

Clinvar variants

Variants in PLS3

Penetrance

None

Panels with this gene

History Filter Activity

7 Mar 2025, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration was removed from gene: PLS3.

20 Nov 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: PLS3.

20 Nov 2024, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: PLS3 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females

20 Nov 2024, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration was removed from gene: PLS3.

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: PLS3.

14 Sep 2023, Gel status: 3