Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Skeletal dysplasia v1.283 | AKT1 | Eleanor Williams Classified gene: AKT1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.283 | AKT1 | Eleanor Williams Added comment: Comment on list classification: Keeping red for now. Associated with Proteus syndrome, somatic in OMIM, more consistent with segmental overgrowth, a mosaic disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.283 | AKT1 | Eleanor Williams Gene: akt1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.219 | AKT1 |
Eleanor Williams changed review comment from: Associated with several phenotypes in OMIM including Proteus syndrome, somatic # 176920. Proteus syndrome features overgrowth of body parts and is associated with mosaicism for a somatic activating mutation in the AKT1 gene. The Genomics England clinical team do not consider this appropriate for a green rating on the skeletal dysplasia panel.; to: Associated with several phenotypes in OMIM including Proteus syndrome, somatic # 176920. Proteus syndrome features overgrowth of body parts and is associated with mosaicism for a somatic activating mutation in the AKT1 gene. PMID: 21793738 - Lindhurst et al 2011 - Of 29 patients with the Proteus syndrome, 26 had a somatic activating mutation (c.49G→A, p.Glu17Lys) in the oncogene AKT1. Tissues and cell lines from patients with the Proteus syndrome harbored admixtures of mutant alleles that ranged from 1% to approximately 50%. Mutant cell lines showed greater AKT phosphorylation than did control cell lines. The Genomics England clinical team do not consider this appropriate for a green rating on the skeletal dysplasia panel. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.219 | AKT1 |
Eleanor Williams commented on gene: AKT1: Associated with several phenotypes in OMIM including Proteus syndrome, somatic # 176920. Proteus syndrome features overgrowth of body parts and is associated with mosaicism for a somatic activating mutation in the AKT1 gene. The Genomics England clinical team do not consider this appropriate for a green rating on the skeletal dysplasia panel. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.153 | AKT1 | Eleanor Williams Added phenotypes Proteus syndrome, somatic 176920; Cowden syndrome 6 615109 for gene: AKT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | AKT1 | Tracy Lester reviewed gene: AKT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cowden syndrome 6 615109, Proteus syndrome, somatic 176920; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | AKT1 | Eleanor Williams reviewed gene: AKT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | AKT1 | Eleanor Williams Source NHS GMS was added to AKT1. |