PTEN

phosphatase and tensin homolog
OMIM: 601728
PanelMode of inheritanceDetails
11 panels
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cowden syndrome
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BANNAYAN-ZONANA SYNDROME 153480, COWDEN DISEASE 158350, MACROCEPHALY/AUTISM SYNDROME 605309, VACTERL ASSOCIATION WITH HYDROCEPHALUS 276950, PROTEUS SYNDROME 176920, LHERMITTE-DUCLOS DISEASE 158350
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Macrocephaly/autism syndrome
R-numbers: R211, R209
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Bannayan-Riley-Ruvalcaba syndrome 153480 AD, Cowden syndrome 1 158350, PTEN hamartoma tumor syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cowden syndrome 1, 158350Lhermitte-Duclos syndrome, 158350Bannayan-Riley-Ruvalcaba syndrome, 153480{Meningioma}, 607174{Glioma susceptibility 2}, 613028Macrocephaly/autism syndrome, 605309PTEN hamartoma tumor syndromeVATER association with macrocephaly and ventriculomegaly, 276950{Prostate cancer, somatic}, 176807Thyroid carcinoma, follicular, somatic, 188470Malignant melanoma, somatic, 155600Endometrial carcinoma, somatic, 608089Squamous cell carcinoma, head and neck, somatic, 275355, PROTEUS SYNDROME
R-numbers: R327
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Epidermal naevi, Melanoma
Component of the following Super Panels:
  • - Cerebral malformations
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
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
R-numbers: R236
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Bannayan-Riley-Ruvalcaba syndrome, COWDEN SYNDROME 1, Melanoma, Cowden syndrome, CWS1, Epidermal naevi
R-numbers: R110
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
R-numbers: R359
Signed-off version 2.5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Glioma susceptibility 2}, 613028, Macrocephaly/autism syndrome, 605309, VATER association with macrocephaly and ventriculomegaly, 76950, {Prostate cancer, somatic}, 176807, {Meningioma}, 607174, Squamous cell carcinoma, head and neck, somatic, 275355, Prostate cancer, somatic}, 176807, Cowden Disease, Bannayan-Riley-Ruvalcaba syndrome, 153480, Malignant melanoma, somatic, 155600, Cowden syndrome 1, 158350, Endometrial carcinoma, somatic, 608089, Cowden Syndrome, Thyroid carcinoma, follicular, somatic, 188470, Cowden syndrome, Lhermitte-Duclos syndrome, 158350, PTEN hamartoma tumor syndrome, VATER association with macrocephaly and ventriculomegaly, 276950
R-numbers: R62
Signed-off version 1.6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes