Autism
Gene: PTEN
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
BANNAYAN-RILEY-RUVALCABA SYNDROME, OMIM158350
Each gene in the SFARI Human Gene module has a dedicated entry summary page, see here for more info on this gene: https://gene.sfari.org/database/human-gene/PTEN Gene indicated by SFARI as predisposition to autism in the context of a syndromic disorder. The number of ASD-specific reports that implicate a gene compared to the total number of relevant non-ASD-specific reports that mention the gene. Autism reports / Total reports : 19 / 53Created: 1 Apr 2019, 11:26 a.m.
Publications for gene PTEN were changed from 15805158; 19265751; 23160955; 25363760; 20533527; 25288137; 18759867; 11496368; 22495309; 26401017 to 20212079; 26185613; 23042784; 24267887; 26166478; 25989142; 24090431; 24581740; 26167905; 23999528; 25294932
Added phenotypes ID, ADHD, EPS, DD/NDD, ASD; Cowden syndrome, Macrocephaly/autism syndrome, PTEN hamartoma tumor syndrome for gene: PTEN
Publications for gene PTEN were changed from to 15805158; 19265751; 23160955; 25363760; 20533527; 25288137; 18759867; 11496368; 22495309; 26401017
Source Expert Review Green was added to PTEN. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: PTEN was added gene: PTEN was added to Autism. Sources: SFARI Mode of inheritance for gene: PTEN was set to