DDG2P
Gene: PTEN
The DDG2P confidence category for the disease PROTEUS SYNDROME, OMIM:176920 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and typically mosaic respectively (PMIDs: 12471211;16704655;11476841).
The DDG2P confidence category for the disease PTEN Hamartoma Tumor Syndrome is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 11238682;10353779;9140396;9425889;12844284;15805158;9467011;9832032;17286265;10777358;23160955;9259288;9832031;9241266;10051160).Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 6 Oct 2023, 9:26 a.m.
Panel Version: 3.14
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PTEN Hamartoma Tumor Syndrome; PROTEUS SYNDROME, OMIM:176920
Publications
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.
Publications for gene: PTEN were updated from 23160955; 15805158; 17286265 to 9241266; 9467011; 9259288; 17286265; 11476841; 9425889; 9140396; 9832031; 10051160; 16704655; 12844284; 15805158; 12471211; 10353779; 10777358; 23160955; 11238682; 9832032
Rebecca Foulger: Original DDG2P rating: confirm
Tag mosaicism tag was added to gene: PTEN.
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
Added phenotypes PROTEUS SYNDROME 176920 for gene: PTEN
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
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
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
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