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DDG2P

Gene: PTEN

Green List (high evidence)

PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 50 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Mosaicism tag added: In DD-G2P download, mosaic MOI listed for PROTEUS SYNDROME 176920.
Created: 19 Nov 2018, 1:20 p.m.
Original DDG2P rating: confirmed (for all listed disorders). Multiple MOPs in DD-G2P download: loss of function, uncertain. Multiple MOIs in DD-G2P download: monoallelic and mosaic.
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BANNAYAN-ZONANA SYNDROME 153480
  • COWDEN DISEASE 158350
  • MACROCEPHALY/AUTISM SYNDROME 605309
  • VACTERL ASSOCIATION WITH HYDROCEPHALUS 276950
  • PROTEUS SYNDROME 176920
  • LHERMITTE-DUCLOS DISEASE 158350
Tags
mosaicism
OMIM
601728
Clinvar variants
Variants in PTEN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Added Tag

Rebecca Foulger (Genomics England curator)

Tag mosaicism tag was added to gene: PTEN.

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes MACROCEPHALY/AUTISM SYNDROME 605309 for gene: PTEN Publications for gene PTEN were changed from 10353779; 9425889; 11238682; 9832031; 9140396; 10777358; 10051160; 9259288; 12844284; 9467011; 12471211 to 23160955; 15805158; 17286265

19 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes PROTEUS SYNDROME 176920 for gene: PTEN

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes LHERMITTE-DUCLOS DISEASE 158350 for gene: PTEN Publications for gene PTEN were changed from 11748304 to 10353779; 9425889; 11238682; 9832031; 9140396; 10777358; 10051160; 9259288; 12844284; 9467011; 12471211

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes VACTERL ASSOCIATION WITH HYDROCEPHALUS 276950 for gene: PTEN Publications for gene PTEN were changed from 10353779; 9425889; 11238682; 9832031; 9140396; 10777358; 10051160; 9259288; 12844284; 9467011; 12471211 to 11748304

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes COWDEN DISEASE 158350 for gene: PTEN Publications for gene PTEN were changed from 9832032; 12844284; 9241266 to 10353779; 9425889; 11238682; 9832031; 9140396; 10777358; 10051160; 9259288; 12844284; 9467011; 12471211

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: PTEN was added gene: PTEN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PTEN were set to 9832032; 12844284; 9241266 Phenotypes for gene: PTEN were set to BANNAYAN-ZONANA SYNDROME 153480