Radial dysplasia
Gene: PTEN
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
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
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.
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
This gene has been classified as Amber List (Moderate Evidence).
Publications for PTEN were set to 11748304
Mode of inheritance for PTEN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Amber List (Moderate Evidence).
PTEN was added to Radial dysplasiapanel. Source: Other Model of inheritance for gene PTEN was set to BIALLELIC, autosomal or pseudoautosomal
PTEN was created by rfoulger
PTEN was added to Radial dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen