White matter disorders and cerebral calcification - narrow panel
Gene: PTEN
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.9
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. Therefore this gene should be rated Green at the next review.Created: 14 Jun 2021, 1:56 p.m. | Last Modified: 14 Jun 2021, 1:56 p.m.
Panel Version: 1.180
White matter changes described in many individuals.
Sources: Expert listCreated: 16 Sep 2020, 4:17 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cowden syndrome 1, MIM# 158350
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q3_21_rating was removed from gene: PTEN.
Source NHS GMS was added to PTEN. Source Expert Review Green was added to PTEN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q3_21_rating tag was added to gene: PTEN.
Gene: pten has been classified as Amber List (Moderate Evidence).
Publications for gene: PTEN were set to 29720545; 29152901; 30664625
Phenotypes for gene: PTEN were changed from Cowden syndrome 1, MIM# 158350 to Cowden syndrome 1, OMIM:158350
gene: PTEN was added gene: PTEN was added to White matter disorders and cerebral calcification - narrow panel. 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 29720545; 29152901; 30664625 Phenotypes for gene: PTEN were set to Cowden syndrome 1, MIM# 158350 Review for gene: PTEN was set to GREEN gene: PTEN was marked as current diagnostic