Radial dysplasia
Gene: PTENEnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 54 panels
3 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Only one case reported to date with a VATER phenotype (including radial anomalies) and a PTEN mutation. PTEN is associated with many syndromes, but radial defects are not expected in general. Marked as amber, in case further cases with a radial phenotype are reported so that it can be promoted in the future.Created: 11 May 2017, 12:58 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Bannayan-Riley-Ruvalcaba syndrome 153480; Cowden syndrome 1 158350; Lhermitte-Duclos syndrome 158350; Macrocephaly/autism syndrome 605309; PTEN hamartoma tumor syndrome
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
Unknown
Phenotypes
Myelodysplastic syndrome (MDS), Adult; Myelodysplastic syndrome (MDS), Paediatric; Acute myeloid leukaemia (AML)
Variants in this GENE are reported as part of current diagnostic practice
Rebecca Foulger (Genomics England curator)
PTEN is included in the Radial dysplasia gene panel based on its links to Vacteryl disorders. VACTERL describes a constellation of congenital anomalies, including vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects.Created: 22 May 2017, 1:29 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Other
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- VATER association with macrocephaly and ventriculomegaly,276950
- VACTERL ASSOCIATION WITH HYDROCEPHALUS
- VACTERL-H
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Inherited non-medullary thyroid cancer
- 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
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Adult onset leukodystrophy
- Hereditary neuropathy
- Segmental overgrowth disorders - Deep sequencing
- Genodermatoses with malignancies
- Breast cancer pertinent cancer susceptibility
- PTEN Hamartoma Tumour Syndrome
- Hydrocephalus
- Adult onset neurodegenerative disorder
- Multiple endocrine tumours
- Pigmentary skin disorders
- Cerebral vascular malformations
- Thyroid cancer pertinent cancer susceptibility
- Inherited renal cancer
- Gastrointestinal epithelial barrier disorders
- Adult onset dystonia, chorea or related movement disorder
- Vascular skin disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Childhood solid tumours cancer susceptibility
- Inherited phaeochromocytoma and paraganglioma
- Inherited ovarian cancer (without breast cancer)
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Early onset or syndromic epilepsy
- 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
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Neurological segmental overgrowth
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Fetal anomalies
- Renal cancer pertinent cancer susceptibility
- GI tract tumours
- Sarcoma susceptibility
- Familial prostate cancer
- Early onset dystonia
- Childhood solid tumours
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for PTEN were set to 11748304
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for PTEN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Mode of Inheritance, Added New Source
Rebecca Foulger (Genomics England curator)PTEN was added to Radial dysplasiapanel. Source: Other Model of inheritance for gene PTEN was set to BIALLELIC, autosomal or pseudoautosomal
Created
Rebecca Foulger (Genomics England curator)PTEN was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)PTEN was added to Radial dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen