Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
White matter disorders and cerebral calcification - narrow panel v2.9 | PTEN | Sarah Leigh Tag Q3_21_rating was removed from gene: PTEN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.9 | PTEN | Sarah Leigh reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v2.8 | PTEN |
Sarah Leigh 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) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.220 | PTEN | Ivone Leong Tag Q3_21_rating tag was added to gene: PTEN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.180 | PTEN | Ivone Leong Classified gene: PTEN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.180 | PTEN | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.180 | PTEN | Ivone Leong Gene: pten has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.179 | PTEN | Ivone Leong Publications for gene: PTEN were set to 29720545; 29152901; 30664625 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.111 | PTEN | Arina Puzriakova Phenotypes for gene: PTEN were changed from Cowden syndrome 1, MIM# 158350 to Cowden syndrome 1, OMIM:158350 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.14 | PTEN |
Zornitza Stark 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 Added comment: White matter changes described in many individuals. Sources: Expert list |