Neurological segmental overgrowth

Gene: PTEN

Green List (high evidence)

PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 55 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: PTEN rated as green based on expert review and is a confirmed DD gene for the Bannayan-Riley-Ruvalcaba (Bannayan-Zonana) syndrome.
Created: 15 Nov 2016, 5:08 p.m.

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Bannayan-Riley-Ruvalcaba syndrome, 153480; BRRS; Bannayan-Riley-Ruvalcaba syndrome,153480; PHTS; PTEN Hamartoma Tumor Syndrome; Macrocephaly and Overgrowth Syndromes; megalencephaly; macrocephaly; Bannayan Riley Ruvalcalba Syndrome; Bannayan-Riley-Ruvalcaba Syndrome; Cowden syndrome; Proteus-like syndrome; hemihypertrophy

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Cowden syndrome 1, OMIM:158350
  • Lhermitte-Duclos syndrome, OMIM:158350
  • Macrocephaly/autism syndrome, OMIM:605309
OMIM
601728
Clinvar variants
Variants in PTEN
Penetrance
None
Panels with this gene

History Filter Activity

26 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PTEN were changed from hemihypertrophy; Bannayan Riley Ruvalcalba Syndrome; Bannayan-Riley-Ruvalcaba Syndrome; Proteus-like syndrome; macrocephaly; Bannayan-Riley-Ruvalcaba syndrome, 153480; BRRS; Bannayan-Riley-Ruvalcaba syndrome,153480; megalencephaly; PTEN Hamartoma Tumor Syndrome; Macrocephaly and Overgrowth Syndromes; PHTS; Cowden syndrome to Cowden syndrome 1, OMIM:158350; Lhermitte-Duclos syndrome, OMIM:158350; Macrocephaly/autism syndrome, OMIM:605309

31 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

gene: PTEN was added gene: PTEN was added to Neurological segmental overgrowth. Sources: Expert Review Green Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTEN were set to hemihypertrophy; Bannayan Riley Ruvalcalba Syndrome; Bannayan-Riley-Ruvalcaba Syndrome; Proteus-like syndrome; macrocephaly; Bannayan-Riley-Ruvalcaba syndrome, 153480; BRRS; Bannayan-Riley-Ruvalcaba syndrome,153480; megalencephaly; PTEN Hamartoma Tumor Syndrome; Macrocephaly and Overgrowth Syndromes; PHTS; Cowden syndrome