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Autism

Gene: PTEN

Green List (high evidence)

PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 52 panels

2 reviews

Israel Gomy (Dana-Farber Cancer Institute)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
BANNAYAN-RILEY-RUVALCABA SYNDROME, OMIM158350

Louise Daugherty (Genomics England Curator)

I don't know

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 / 53
Created: 1 Apr 2019, 11:26 a.m.

Details

Sources
  • Expert Review Green
  • SFARI
Phenotypes
  • ID, ADHD, EPS, DD/NDD, ASD
  • Cowden syndrome, Macrocephaly/autism syndrome, PTEN hamartoma tumor syndrome
OMIM
601728
Clinvar variants
Variants in PTEN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

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

1 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ID, ADHD, EPS, DD/NDD, ASD; Cowden syndrome, Macrocephaly/autism syndrome, PTEN hamartoma tumor syndrome for gene: PTEN

29 Mar 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene PTEN were changed from to 15805158; 19265751; 23160955; 25363760; 20533527; 25288137; 18759867; 11496368; 22495309; 26401017

29 Mar 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to PTEN. Rating Changed from Red List (low evidence) to Green List (high evidence)

29 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: PTEN was added gene: PTEN was added to Autism. Sources: SFARI Mode of inheritance for gene: PTEN was set to