| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Segmental overgrowth disorders - Deep sequencing v3.12 | AKT2 | Arina Puzriakova Classified gene: AKT2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental overgrowth disorders - Deep sequencing v3.12 | AKT2 | Arina Puzriakova Added comment: Comment on list classification: At least three unrelated families reported with the same activating mosaic c.49G>A (p.E17K) variant in the AKT2 gene. Mild asymmetric overgrowth was seen in 2/3 cases. Sibs from the third family showed early overgrowth but no signs of body asymmetry. Overall the evidence is borderline amber/green. However, as this gene has been expert reviewed as green by Tom Cullup (GOSH) and is likely to be diagnostically relevant, recommending AKT2 is promoted to green status at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental overgrowth disorders - Deep sequencing v3.12 | AKT2 | Arina Puzriakova Gene: akt2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental overgrowth disorders - Deep sequencing v3.11 | AKT2 | Arina Puzriakova Publications for gene: AKT2 were set to 28502730 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental overgrowth disorders - Deep sequencing v3.10 | AKT2 | Arina Puzriakova Mode of pathogenicity for gene: AKT2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental overgrowth disorders - Deep sequencing v3.9 | AKT2 |
Arina Puzriakova Tag Q3_23_promote_green tag was added to gene: AKT2. Tag Q3_23_NHS_review tag was added to gene: AKT2. Tag recurrent-variant tag was added to gene: AKT2. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental overgrowth disorders - Deep sequencing v3.5 | AKT2 | Tom Cullup reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 21979934, 24285683; Phenotypes: hypoinsulinemic hypoglycemia with hemihypertrophy (HIHGHH) (MIM 240900); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental overgrowth disorders - Deep sequencing v2.10 | AKT2 | Arina Puzriakova Phenotypes for gene: AKT2 were changed from Hypoinsulinemic hypoglycemia with hemihypertrophy,240900; Hypoinsulinemic hypoglycemia with hemihypertrophy; HIHGHH; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 to Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900; Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental overgrowth disorders - Deep sequencing v1.10 | AKT2 | Catherine Snow Publications for gene: AKT2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental overgrowth disorders - Deep sequencing v1.9 | AKT2 | Catherine Snow Classified gene: AKT2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental overgrowth disorders - Deep sequencing v1.9 | AKT2 | Catherine Snow Added comment: Comment on list classification: After consultation with Genomics England clinical team who identified AKT2 in the review paper PMID:28502730 – "4 cases summarised, they all have the same missense variant, and I can’t see if any work has been done re mechanism e.g. gain of function". Advised rating as Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental overgrowth disorders - Deep sequencing v1.9 | AKT2 | Catherine Snow Gene: akt2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||