Autism
Gene: PTENEnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 54 panels
2 reviews
Israel Gomy (Dana-Farber Cancer Institute)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
BANNAYAN-RILEY-RUVALCABA SYNDROME, OMIM158350
Louise Daugherty (Genomics England Curator)
Each gene in the SFARI Human Gene module has a dedicated entry summary page, see here for more info on this gene: https://gene.sfari.org/database/human-gene/PTEN Gene indicated by SFARI as predisposition to autism in the context of a syndromic disorder. The number of ASD-specific reports that implicate a gene compared to the total number of relevant non-ASD-specific reports that mention the gene. Autism reports / Total reports : 19 / 53Created: 1 Apr 2019, 11:26 a.m.
Details
- Sources
-
- Expert Review Green
- SFARI
- Phenotypes
-
- ID, ADHD, EPS, DD/NDD, ASD
- Cowden syndrome, Macrocephaly/autism syndrome, PTEN hamartoma tumor syndrome
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- None
- Publications
- Panels with this gene
-
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Neurological segmental overgrowth
- 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
- DDG2P
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Childhood solid tumours
- Fetal anomalies
- Inherited non-medullary thyroid cancer
- Adult onset dystonia, chorea or related movement disorder
- Radial dysplasia
- Multiple monogenic benign skin tumours
- Inherited polyposis and early onset colorectal cancer - germline testing
- VACTERL-like phenotypes
- Familial breast cancer
- Non-syndromic familial congenital anorectal malformations
- Endometrial cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Malformations of cortical development
- Mosaic skin disorders - deep sequencing
- Gastrointestinal neuromuscular disorders
- White matter disorders and cerebral calcification - narrow panel
- Adult onset leukodystrophy
- Hereditary neuropathy
- Segmental overgrowth disorders - Deep sequencing
- Genodermatoses with malignancies
- Breast cancer pertinent cancer susceptibility
- PTEN Hamartoma Tumour Syndrome
- Intellectual disability
- Hydrocephalus
- Multiple endocrine tumours
- Pigmentary skin disorders
- Cerebral vascular malformations
- Early onset or syndromic epilepsy
- Thyroid cancer pertinent cancer susceptibility
- Inherited renal cancer
- Gastrointestinal epithelial barrier disorders
- Vascular skin disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Childhood solid tumours cancer susceptibility
- Inherited phaeochromocytoma and paraganglioma
- Inherited ovarian cancer (without breast cancer)
- Adult onset neurodegenerative disorder
- Hereditary neuropathy or pain disorder
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Endocrine neoplasia
- Cytopenias and congenital anaemias
- COVID-19 research
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene PTEN were changed from 15805158; 19265751; 23160955; 25363760; 20533527; 25288137; 18759867; 11496368; 22495309; 26401017 to 20212079; 26185613; 23042784; 24267887; 26166478; 25989142; 24090431; 24581740; 26167905; 23999528; 25294932
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes ID, ADHD, EPS, DD/NDD, ASD; Cowden syndrome, Macrocephaly/autism syndrome, PTEN hamartoma tumor syndrome for gene: PTEN
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene PTEN were changed from to 15805158; 19265751; 23160955; 25363760; 20533527; 25288137; 18759867; 11496368; 22495309; 26401017
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to PTEN. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: PTEN was added gene: PTEN was added to Autism. Sources: SFARI Mode of inheritance for gene: PTEN was set to