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
-
- Neurological segmental overgrowth
- Radial dysplasia
- VACTERL-like phenotypes
- Familial breast cancer
- White matter disorders and cerebral calcification - narrow panel
- Non-syndromic familial congenital anorectal malformations
- Endometrial cancer pertinent cancer susceptibility
- Early onset or syndromic epilepsy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Gastrointestinal neuromuscular disorders
- Pigmentary skin disorders
- Genodermatoses with malignancies
- Cerebral vascular malformations
- Breast cancer pertinent cancer susceptibility
- Adult onset neurodegenerative disorder
- Segmental overgrowth disorders - Deep sequencing
- Intellectual disability
- 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
- 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
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