Mosaic brain disorders - deep sequencing
Gene: PTENEnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 54 panels
5 reviews
Alexander Symon-Allen (Genetics Laboratory, Oxford UK)
Germline PTEN variant detected in fetus accompanied by a loss of heterozygosity in affected tissue. Further evidence that early post-zygotic 2nd hits are required for MCDs when a single germline hit is a LoF variant.Created: 23 Jan 2026, 11:31 a.m. | Last Modified: 23 Jan 2026, 11:31 a.m.
Panel Version: 0.148
Mode of inheritance
Other
Phenotypes
Hemimegalencephaly
Publications
- PMID: 41489603
Sarah Leigh (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
macrocephaly/autism syndrome, OMIM:605309; focal cortical dysplasia (PMID: 17013611); PTEN harmatoma tumour syndrome/Cowden syndrome-1 (CWS1), OMIM:158350
Publications
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on classification of this gene: This gene should be rated as GREEN as there are sufficient cases (>3 unrelated cases) identified with variants in PTEN.
The gene-disease associations have already been reported in OMIM.
In addition to germline variants, two somatic variants of PTEN affecting a single patient with intractable epilepsy and hemimegalencephaly was reported in PMID:34048549.Created: 21 Dec 2022, 4:28 p.m. | Last Modified: 21 Dec 2022, 4:28 p.m.
Panel Version: 0.44
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cowden syndrome 1, OMIM:158350; Lhermitte-Duclos disease, OMIM:158350; Macrocephaly/autism syndrome, OMIM:605309
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 5:26 p.m. | Last Modified: 1 Feb 2023, 5:34 p.m.
Panel Version: 0.93
Review submitted on behalf of Dr Lara Menzies, Dr Wendy Jones, Dr Amy McTague. Mode of inheritance: AD, mosaic. Publications: For summary see Jansen et al 2015 and above MTOR summary papers.PTEN somatic mutations contribute to spectrum of cerebral overgrowth. Koboldt et al. Brain. 2021 Nov 29;144(10):2971-2978. doi: 10.1093/brain/awab173.PMID: 34048549 Mechanism: GOF (MTOR Pathway). Penetrance: variable penetrance.Created: 21 Dec 2022, 12:16 p.m. | Last Modified: 21 Dec 2022, 12:16 p.m.
Panel Version: 0.2
Phenotypes
Macrocephaly and ID, Hemimegalencephaly. NB There are a number of assitional phenotypes associated with this gene that are not relevant for this particular clinical indication. Cortical Dysplasia, Complex Cerebral malformation
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Cowden syndrome 1, OMIM:158350
- Lhermitte-Duclos disease, OMIM:158350
- Macrocephaly/autism syndrome, OMIM:605309
- Tags
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Neurological segmental overgrowth
- Radial dysplasia
- VACTERL-like phenotypes
- Familial breast cancer
- Non-syndromic familial congenital anorectal malformations
- Endometrial cancer pertinent cancer susceptibility
- Gastrointestinal neuromuscular disorders
- Adult onset neurodegenerative disorder
- Genodermatoses with malignancies
- Cerebral vascular malformations
- Childhood onset dystonia, chorea or related movement disorder
- Breast cancer pertinent cancer susceptibility
- Segmental overgrowth disorders - Deep sequencing
- Pigmentary skin disorders
- Early onset or syndromic epilepsy
- Multiple endocrine tumours
- Mosaic skin disorders - deep sequencing
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- 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
- Childhood solid tumours cancer susceptibility
- Inherited phaeochromocytoma and paraganglioma
- Vascular skin disorders
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- PTEN Hamartoma Tumour Syndrome
- Cytopenias and congenital anaemias
- 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
- Intellectual disability
- Hereditary neuropathy or pain disorder
- 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
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to PTEN.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: PTEN were set to 25722288; 34048549
Set mode of pathogenicity
Arina Puzriakova (Genomics England Curator)Mode of pathogenicity for gene: PTEN was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag somatic tag was added to gene: PTEN.
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: PTEN were changed from to Cowden syndrome 1, OMIM:158350; Lhermitte-Duclos disease, OMIM:158350; Macrocephaly/autism syndrome, OMIM:605309
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: PTEN were set to
Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Mode of inheritance for gene: PTEN was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: pten has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: PTEN was added gene: PTEN was added to Mosaic brain disorders. Sources: Expert list Mode of inheritance for gene: PTEN was set to