Malformations of cortical development
Gene: PTEN
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 11:35 a.m. | Last Modified: 1 Feb 2023, 11:35 a.m.
Panel Version: 3.11
In the retrospective study PMID: 32162846, the authors observe four unrelated cases who exhibit polymicrogyria.Created: 14 Dec 2021, 4:30 p.m. | Last Modified: 14 Dec 2021, 4:30 p.m.
Panel Version: 2.120
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 14 Dec 2021, 4:28 p.m. | Last Modified: 14 Dec 2021, 4:28 p.m.
Panel Version: 2.120
PMID: 32162846 - 4 unrelated individuals with PTEN variants with polymicrogyria
Sources: Expert listCreated: 28 Aug 2020, 1:46 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cowden syndrome 1 158350; Lhermitte-Duclos syndrome 158350; Macrocephaly/autism syndrome 605309
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q4_21_rating was removed from gene: PTEN.
Source Expert Review Green was added to PTEN. Source NHS GMS was added to PTEN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_21_rating tag was added to gene: PTEN.
Gene: pten has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: PTEN were changed from Cowden syndrome 1 158350; Lhermitte-Duclos syndrome 158350; Macrocephaly/autism syndrome 605309 to Cowden syndrome 1 OMIM:158350; Lhermitte-Duclos syndrome OMIM:158350; Cowden syndrome 1 MONDO:0008021; Macrocephaly/autism syndrome OMIM:605309; macrocephaly-autism syndrome MONDO:0011537
gene: PTEN was added gene: PTEN was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTEN were set to 32162846 Phenotypes for gene: PTEN were set to Cowden syndrome 1 158350; Lhermitte-Duclos syndrome 158350; Macrocephaly/autism syndrome 605309 Review for gene: PTEN was set to GREEN gene: PTEN was marked as current diagnostic