Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Gene: PTEN

Green List (high evidence)

PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 54 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Review and Green rating from Kate Tatton-Brown April 2017
Created: 31 May 2019, 9:13 a.m.
Recently Human overgrowth syndrome-causing mutations in the gene PTEN have been identified.
From abstract (unpublished) Tatton-Brown et al (2017)(http://conf.hinxton.wellcome.ac.uk/advancedcourses/GRD2017Abstactbook.pdf) Human overgrowth syndromes (OGID) are a nebulous group of conditions with height and/or head circumference ≥ 2SD above the mean, together with additional phenotypic abnormalities, the commonest of which is intellectual disability. To explore the genetic architecture of human overgrowth syndromes and growth control, we have performed experimental and bioinformatic analyses of 710 individuals with OGID, identifying patients with OGID-causing mutations in genes including NSD1 (240 cases), EZH2 (34 cases), DNMT3A (18 cases), CHD8 (12 cases) and EED (two cases) and HIST1H1E (five cases). Other genes with OGID-causing mutations, identified in the current study, include NFIX (14 cases), GPC3 (two cases) and BRWD3 (seven cases) in addition to the genes encoding components of the PI3K/AKT pathway (PTEN (16 cases); PPP2R5D (three cases); AKT and PIK3CA (one case each).
Created: 31 Mar 2017, 6:04 p.m.

Mode of inheritance
Unknown

Phenotypes
Human overgrowth syndrome type

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • Overgrowth with Intellectual disability
  • Human overgrowth syndrome type
OMIM
601728
Clinvar variants
Variants in PTEN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

31 May 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: PTEN were changed from Overgrowth with Intellectual disability Human overgrowth syndrome type to Overgrowth with Intellectual disability; Human overgrowth syndrome type

31 May 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

31 May 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: PTEN were set to

31 May 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: PTEN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

31 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: PTEN were changed from Human overgrowth syndrome type to Overgrowth with Intellectual disability Human overgrowth syndrome type

31 Mar 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

PTEN was created by LouiseD

31 Mar 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

PTEN was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorderspanel. Sources: Other