Malformations of cortical development
Gene: PTENEnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 54 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 11:35 a.m. | Last Modified: 1 Feb 2023, 11:35 a.m.
Panel Version: 3.11
Sarah Leigh (Genomics England Curator)
In the retrospective study PMID: 32162846, the authors observe four unrelated cases who exhibit polymicrogyria.Created: 14 Dec 2021, 4:30 p.m. | Last Modified: 14 Dec 2021, 4:30 p.m.
Panel Version: 2.120
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 14 Dec 2021, 4:28 p.m. | Last Modified: 14 Dec 2021, 4:28 p.m.
Panel Version: 2.120
Zornitza Stark (Australian Genomics)
PMID: 32162846 - 4 unrelated individuals with PTEN variants with polymicrogyria
Sources: Expert listCreated: 28 Aug 2020, 1:46 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cowden syndrome 1 158350; Lhermitte-Duclos syndrome 158350; Macrocephaly/autism syndrome 605309
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Cowden syndrome 1 OMIM:158350
- Lhermitte-Duclos syndrome OMIM:158350
- Cowden syndrome 1 MONDO:0008021
- Macrocephaly/autism syndrome OMIM:605309
- macrocephaly-autism syndrome MONDO:0011537
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- None
- Publications
- Panels with this gene
-
- Segmental overgrowth disorders - Deep sequencing
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Hereditary neuropathy or pain disorder
- Cytopenias and congenital anaemias
- COVID-19 research
- Cerebral vascular malformations
- Neurodegenerative disorders, adult onset
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Mosaic skin disorders - Deep sequencing
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- GI tract tumours
- Sarcoma susceptibility
- Leukodystrophy, adult onset
- Intellectual disability
- Familial prostate cancer
- Early onset dystonia
- Inherited polyposis and early onset colorectal cancer - germline testing
- Hydrocephalus
- Childhood solid tumours
- Multiple monogenic benign skin tumours
- Inherited non-medullary thyroid cancer
- Inherited ovarian cancer (without breast cancer)
- Vascular skin disorders
- White matter disorders and cerebral calcification - childhood onset
- Radial dysplasia
- VACTERL-like phenotypes
- Familial breast cancer
- Non-syndromic familial congenital anorectal malformations
- Endometrial cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Dystonia, chorea or related movement disorder, adult onset
- Gastrointestinal neuromuscular disorders
- Malformations of cortical development
- Neurological segmental overgrowth
- DDG2P
- Genodermatoses with malignancies
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Breast cancer pertinent cancer susceptibility
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Endocrine neoplasia
- Multiple endocrine tumours
- Pigmentary skin disorders
- Thyroid cancer pertinent cancer susceptibility
- Gastrointestinal epithelial barrier disorders
- Inherited renal cancer
- PTEN Hamartoma Tumor Syndrome
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Early onset or syndromic epilepsy
- Childhood solid tumours cancer susceptibility
- Fetal anomalies
- Inherited phaeochromocytoma and paraganglioma
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_21_rating was removed from gene: PTEN.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to PTEN. Source NHS GMS was added to PTEN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q4_21_rating tag was added to gene: PTEN.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: pten has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PTEN were changed from Cowden syndrome 1 158350; Lhermitte-Duclos syndrome 158350; Macrocephaly/autism syndrome 605309 to Cowden syndrome 1 OMIM:158350; Lhermitte-Duclos syndrome OMIM:158350; Cowden syndrome 1 MONDO:0008021; Macrocephaly/autism syndrome OMIM:605309; macrocephaly-autism syndrome MONDO:0011537
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: PTEN was added gene: PTEN was added to Malformations of cortical development. 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 32162846 Phenotypes for gene: PTEN were set to Cowden syndrome 1 158350; Lhermitte-Duclos syndrome 158350; Macrocephaly/autism syndrome 605309 Review for gene: PTEN was set to GREEN gene: PTEN was marked as current diagnostic