Vascular skin disorders
Gene: AKT3EnsemblGeneIds (GRCh38): ENSG00000117020
EnsemblGeneIds (GRCh37): ENSG00000117020
OMIM: 611223, Gene2Phenotype
AKT3 is in 13 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.Created: 4 Dec 2024, 10:02 p.m. | Last Modified: 4 Dec 2024, 10:02 p.m.
Panel Version: 1.65
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene added to this panel by Zornitza Stark (Australian Genomics). Variants in this gene cause a spectrum of megalencephaly-related disorders, which in some cases can present as megalencephaly-capillary malformation syndrome (MCAP). Both somatic and germline variants have been reported. Vascular skin anomalies have been identified in at least 2 individuals germline variants (PMIDs: 22729224; 23745724) and 5 individuals with somatic variants (PMIDs: 25722288; 28969385; 34237354; 36695285; 37395289). Somatic variants may be missed but given that this panel is a possible referral route for these patients, recommending that AKT3 is promoted to green at the next GMS panel update.Created: 9 Aug 2023, 1:30 p.m. | Last Modified: 9 Aug 2023, 1:30 p.m.
Panel Version: 1.52
Zornitza Stark (Australian Genomics)
Established cause of Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (615937). Capillary malformations reported in PMID 23745724 & 22729224, both cases de novo AKT3 variants.
Sources: Expert listCreated: 2 Jul 2020, 12:10 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (615937)
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (615937)
- OMIM
- 611223
- Clinvar variants
- Variants in AKT3
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Hydrocephalus
- Vascular skin disorders
- Segmental overgrowth disorders - Deep sequencing
- Early onset or syndromic epilepsy
- Limb disorders
- DDG2P
- Mosaic skin disorders - deep sequencing
- Intellectual disability
- Fetal anomalies
- Severe microcephaly
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Neurological segmental overgrowth
- Malformations of cortical development
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_23_promote_green was removed from gene: AKT3.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to AKT3. Source NHS GMS was added to AKT3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_23_promote_green tag was added to gene: AKT3.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: akt3 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Zornitza Stark (Australian Genomics)gene: AKT3 was added gene: AKT3 was added to Vascular skin disorders. Sources: Expert list Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AKT3 were set to 23745724; 22729224 Phenotypes for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (615937) Mode of pathogenicity for gene: AKT3 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: AKT3 was set to GREEN gene: AKT3 was marked as current diagnostic