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BabyScreen+ newborn screening

Gene: PLS3

Green List (high evidence)

PLS3 (plastin 3)
EnsemblGeneIds (GRCh38): ENSG00000102024
EnsemblGeneIds (GRCh37): ENSG00000102024
OMIM: 300131, Gene2Phenotype
PLS3 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Females mildly affected: exclude from screening.

Presentation in males similar to OI, though also variable in severity.

Treatment: safe handling techniques, bisphosphonates, pamidronate, zoledronic acid, teriparatide, denosumab, alendronate

Non-genetic confirmatory testing: skeletal survey
Sources: Expert list
Created: 22 Mar 2023, 5:12 a.m.

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

Phenotypes
Bone mineral density QTL18, osteoporosis - MIM#300910

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bone mineral density QTL18, osteoporosis - MIM#300910
Tags
treatable skeletal
OMIM
300131
Clinvar variants
Variants in PLS3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pls3 has been classified as Green List (High Evidence).

22 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pls3 has been classified as Green List (High Evidence).

22 Mar 2023, Gel status: 1

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: PLS3. Tag skeletal tag was added to gene: PLS3.

22 Mar 2023, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PLS3 was added gene: PLS3 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: PLS3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PLS3 were set to 32655496; 25209159; 29736964; 29884797; 28777485; 24088043 Phenotypes for gene: PLS3 were set to Bone mineral density QTL18, osteoporosis - MIM#300910 Review for gene: PLS3 was set to GREEN