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| Vascular Malformations_Germline v1.10 | PTEN | Chern Lim reviewed gene: PTEN: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: PTEN hamartoma tumour syndrome (MONDO#0017623); Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.123 | PTEN | Zornitza Stark Marked gene: PTEN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.123 | PTEN | Zornitza Stark Gene: pten has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.123 | PTEN | Zornitza Stark Phenotypes for gene: PTEN were changed from Cowden syndrome; Bannayan-Riley-Ruvalcaba syndrome; Lhermitte-Duclos syndrome to Cowden syndrome 1, MIM# 158350; Bannayan-Riley-Ruvalcaba syndrome; Lhermitte-Duclos syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.122 | PTEN | Zornitza Stark Publications for gene: PTEN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.121 | PTEN | Zornitza Stark reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: 32196895; Phenotypes: Cowden syndrome 1, MIM# 158350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.1 | AKT1 |
Bryony Thompson gene: AKT1 was added gene: AKT1 was added to Vascular Malformations_RMH. Sources: Expert list Mode of inheritance for gene: AKT1 was set to Other Publications for gene: AKT1 were set to 23246288 Phenotypes for gene: AKT1 were set to Proteus syndrome, somatic 176920; Cowden syndrome 6 615109 Mode of pathogenicity for gene: AKT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: AKT1 was set to GREEN Added comment: Activating mutations in this gene cause disease. Somatic activating variants cause Proteus syndrome, a disorder of asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, and vascular malformations. Activating germline AKT1 variants have been reported in 2 cowden syndrome cases, that were negative for PTEN. Vascular malformations were not reported as part of the phenotype for these two cases. Sources: Expert list |
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| Vascular Malformations_Germline v0.0 | PTEN |
Bryony Thompson gene: PTEN was added gene: PTEN was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTEN were set to Cowden syndrome; Bannayan-Riley-Ruvalcaba syndrome; Lhermitte-Duclos syndrome |
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