Radial dysplasia

Gene: PTEN

Amber List (moderate evidence)

PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 48 panels

3 reviews

Helen Brittain (Genomics England Curator)

Red List (low evidence)

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)

Green List (high evidence)

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

History Filter Activity

23 May 2017, Gel status: 2

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

11 May 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

11 May 2017, Gel status: 2

Set publications

Helen Brittain (Genomics England Curator)

Publications for PTEN were set to 11748304

11 May 2017, Gel status: 2

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for PTEN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

11 May 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

13 Oct 2016, Gel status: 1

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

13 Oct 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

PTEN was created by rfoulger

13 Oct 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

PTEN was added to Radial dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen