Hydrocephalus
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
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Helen Brittain (Genomics England Curator)
Several reported cases with mutations. Macrocephaly universally presentCreated: 9 May 2017, 1:23 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Macrocephaly/autism syndrome
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Macrocephaly/autism syndrome, OMIM:605309
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Endocrine neoplasia
- Early onset or syndromic epilepsy
- Multiple endocrine tumours
- Hereditary neuropathy or pain disorder
- DDG2P
- Thyroid cancer pertinent cancer susceptibility
- Gastrointestinal epithelial barrier disorders
- Inherited renal cancer
- PTEN Hamartoma Tumor Syndrome
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Childhood solid tumours cancer susceptibility
- White matter disorders and cerebral calcification - childhood onset
- Inherited phaeochromocytoma and paraganglioma
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Dystonia, chorea or related movement disorder, adult onset
- Cytopenias and congenital anaemias
- Leukodystrophy, adult onset
- 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
- Renal cancer pertinent cancer susceptibility
- Intellectual disability
- GI tract tumours
- Sarcoma susceptibility
- Familial prostate cancer
- Early onset dystonia
- Segmental overgrowth disorders - Deep sequencing
- Dystonia, chorea or related movement disorder, childhood onset
- Childhood solid tumours
- Multiple monogenic benign skin tumours
- Inherited non-medullary thyroid cancer
- Inherited ovarian cancer (without breast cancer)
- Vascular skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- Radial dysplasia
- VACTERL-like phenotypes
- Neurodegenerative disorders, adult onset
- Familial breast cancer
- Non-syndromic familial congenital anorectal malformations
- Endometrial cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Gastrointestinal neuromuscular disorders
- Malformations of cortical development
- Neurological segmental overgrowth
- Pigmentary skin disorders
- Genodermatoses with malignancies
- Breast cancer pertinent cancer susceptibility
- Inherited polyposis and early onset colorectal cancer - germline testing
History Filter Activity
25 Mar 2021, Gel status: 3
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: PTEN were changed from Macrocephaly/autism syndrome to Macrocephaly/autism syndrome, OMIM:605309
29 Jul 2019, Gel status: 3
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PTEN.
31 May 2017, Gel status: 4
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
30 May 2017, Gel status: 4
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
9 May 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)PTEN was added to Hydrocephaluspanel. Source: Expert Review Green
9 May 2017, Gel status: 0
Added New Source
Helen Brittain (Genomics England Curator)PTEN was added to Hydrocephaluspanel. Sources: Literature
9 May 2017, Gel status: 0
Created
Helen Brittain (Genomics England Curator)PTEN was created by helen.brittain