rs1554898088
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Male breast cancer in Cowden syndrome patients with germline PTEN mutations.
11238682
2001
rs1554898088
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.
12844284
2003
rs1554898088
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
15805158
2005
rs1554898088
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.
17392703
2007
rs1554898088
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.
17286265
2007
rs1554898088
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.
17427195
2007
rs1554898088
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.
19265751
2009
rs1554898088
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
PTEN hamartoma tumor syndrome: an overview.
19668082
2009
rs1554898088
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.
21194675
2011
rs1554898088
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Lifetime cancer risks in individuals with germline PTEN mutations.
22252256
2012
rs1554898088
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.
24136893
2013
rs1554898088
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.
23695273
2014
rs1554898088
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Hamartomatous polyposis syndromes: a review.
25022750
2014
rs1554898088
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome.
25132236
2015