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From abstract (unpublished) Tatton-Brown et al (2017)(http://conf.hinxton.wellcome.ac.uk/advancedcourses/GRD2017Abstactbook.pdf) Human overgrowth syndromes (OGID) are a nebulous group of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
-
- Neurological segmental overgrowth
- White matter disorders and cerebral calcification - narrow panel
- Radial dysplasia
- VACTERL-like phenotypes
- Familial breast cancer
- Non-syndromic familial congenital anorectal malformations
- Endometrial cancer pertinent cancer susceptibility
- Intellectual disability
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Gastrointestinal neuromuscular disorders
- Genodermatoses with malignancies
- Cerebral vascular malformations
- Breast cancer pertinent cancer susceptibility
- Adult onset neurodegenerative disorder
- Segmental overgrowth disorders - Deep sequencing
- Pigmentary skin disorders
- Multiple endocrine tumours
- Mosaic skin disorders - deep sequencing
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Inherited polyposis and early onset colorectal cancer - germline testing
- Thyroid cancer pertinent cancer susceptibility
- Gastrointestinal epithelial barrier disorders
- Hereditary neuropathy
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Inherited phaeochromocytoma and paraganglioma
- Cytopenias and congenital anaemias
- Vascular skin disorders
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- PTEN Hamartoma Tumour Syndrome
- Inherited renal cancer
- COVID-19 research
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Adult onset leukodystrophy
- Malformations of cortical development
- Hydrocephalus
- Childhood solid tumours
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- GI tract tumours
- Early onset or syndromic epilepsy
- Sarcoma susceptibility
- Familial prostate cancer
- Early onset dystonia
- Adult solid tumours cancer susceptibility
- Adult onset dystonia, chorea or related movement disorder
- Endocrine neoplasia
- Inherited ovarian cancer (without breast cancer)
- Inherited non-medullary thyroid cancer
- Hereditary neuropathy or pain disorder
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