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From abstract (unpublished) Tatton-Brown et al (2017)(http://conf.hinxton.wellcome.ac.uk/advancedcourses/GRD2017Abstactbook.pdf) Human overgrowth syndromes (OGID) are a nebulous group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