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BabyScreen+ newborn screening

Gene: PTEN

Red List (low evidence)

PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 31 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Well established gene-disease association.

Rated as moderately actionable by ClinGen for paediatric patients.

A meta-analysis of patients with CS indicated a mean age of presentation of 38 years, with a range of 3 to 77 years. By the third decade, 99% of affected individuals develop the mucocutaneous lesions, as well as acral and plantar keratoses. The average age for thyroid disease is 32 years. The average age of breast cancer diagnosis is between 38 and 50 years. The median age of epithelial thyroid cancer onset is 37 years, but has been diagnosed before the age of 18 years and as early as 6 years. Elevated risk for endometrial cancer, colorectal cancer, and renal cell carcinoma starts in the late 30s and early 40s. Individuals are more likely to develop bilateral and multifocal cancer in paired organs.

Patients should undergo annual comprehensive physical examinations starting at age 18 years or 5 years before the youngest age of diagnosis of a component cancer in the family, whichever comes first.

In summary: not actionable in early childhood, therefore exclude.
Created: 16 Dec 2022, 12:49 a.m. | Last Modified: 16 Dec 2022, 12:49 a.m.
Panel Version: 0.1494

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cowden syndrome 1, MIM# 158350; Macrocephaly/autism syndrome, MIM# 605309

History Filter Activity

16 Dec 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pten has been classified as Red List (Low Evidence).

16 Dec 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PTEN were changed from Cowden disease; Bannayan-Riley-Ruvalcaba syndrome to Cowden syndrome 1, MIM# 158350; Macrocephaly/autism syndrome, MIM# 605309

16 Dec 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pten has been classified as Red List (Low Evidence).

16 Dec 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: PTEN. Tag cancer tag was added to gene: PTEN.

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PTEN was added gene: PTEN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTEN were set to Cowden disease; Bannayan-Riley-Ruvalcaba syndrome