Facial papules

Gene: PTEN

Green List (high evidence)

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Multiple facial papules (trichilemmomas) are a diagnostic feature of Cowden syndrome which is included in PTEN hamartoma tumor syndrome.
Sources: Expert list
Created: 19 Jun 2023, 1:58 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
PTEN hamartoma tumor syndrome MONDO:0017623

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

19 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

19 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

19 Jun 2023, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PTEN was added gene: PTEN was added to Facial papules. Sources: Expert list Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTEN were set to 20301661 Phenotypes for gene: PTEN were set to PTEN hamartoma tumor syndrome MONDO:0017623 Review for gene: PTEN was set to GREEN gene: PTEN was marked as current diagnostic