Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Gene: PTEN
PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 54 panels
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 54 panels
1 review
Louise Daugherty (Genomics England Curator)
Review and Green rating from Kate Tatton-Brown April 2017Created: 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From abstract (unpublished) Tatton-Brown et al (2017)(http://conf.hinxton.wellcome.ac.uk/advancedcourses/GRD2017Abstactbook.pdf) Human overgrowth syndromes (OGID) are a nebulous group of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
-
- Expert Review Green
- Other
- Phenotypes
-
- Overgrowth with Intellectual disability
- Human overgrowth syndrome type
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- GI tract tumours
- Breast cancer pertinent cancer susceptibility
- Sarcoma susceptibility
- Familial prostate cancer
- Early onset dystonia
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Endocrine neoplasia
- Inherited ovarian cancer (without breast cancer)
- Inherited non-medullary thyroid cancer
- Early onset or syndromic epilepsy
- White matter disorders and cerebral calcification - narrow panel
- Neurological segmental overgrowth
- Radial dysplasia
- Intellectual disability
- VACTERL-like phenotypes
- Familial breast cancer
- Non-syndromic familial congenital anorectal malformations
- Endometrial cancer pertinent cancer susceptibility
- Hereditary neuropathy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Gastrointestinal neuromuscular disorders
- Pigmentary skin disorders
- COVID-19 research
- Genodermatoses with malignancies
- Cerebral vascular malformations
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Hydrocephalus
- Segmental overgrowth disorders - Deep sequencing
- Hereditary neuropathy or pain disorder
- Multiple endocrine tumours
- Mosaic skin disorders - deep sequencing
- Inherited polyposis and early onset colorectal cancer - germline testing
- Fetal anomalies
- Thyroid cancer pertinent cancer susceptibility
- Gastrointestinal epithelial barrier disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Childhood solid tumours cancer susceptibility
- Childhood onset dystonia, chorea or related movement disorder
- Inherited phaeochromocytoma and paraganglioma
- Cytopenias and congenital anaemias
- Adult onset dystonia, chorea or related movement disorder
- Vascular skin disorders
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- PTEN Hamartoma Tumour Syndrome
- Inherited renal cancer
- Adult onset leukodystrophy
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