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Vascular Malformations_Somatic v1.14 MAP3K3 Zornitza Stark Phenotypes for gene: MAP3K3 were changed from Verrucous venous malformation; Cerebral malformation, MONDO:0016054, MAP3K3-related to Verrucous venous malformation; Cerebral cavernous malformations 5, MIM# 621032
Vascular Malformations_Somatic v1.13 MAP3K3 Zornitza Stark reviewed gene: MAP3K3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral cavernous malformations 5, MIM# 621032; Mode of inheritance: None
Vascular Malformations_Somatic v1.13 PIK3R1 Bryony Thompson Phenotypes for gene: PIK3R1 were changed from capillary and lymphatic malformation to capillary malformation MONDO:0016231, PIK3R1-related
Vascular Malformations_Somatic v1.12 PIK3R1 Bryony Thompson Publications for gene: PIK3R1 were set to 29174369
Vascular Malformations_Somatic v1.11 PIK3R1 Bryony Thompson Classified gene: PIK3R1 as Green List (high evidence)
Vascular Malformations_Somatic v1.11 PIK3R1 Bryony Thompson Gene: pik3r1 has been classified as Green List (High Evidence).
Vascular Malformations_Somatic v1.10 PIK3R1 Bryony Thompson edited their review of gene: PIK3R1: Added comment: Many reports now of somatic variants in individuals with capillary malformation with dilated veins. Loss of function is the expected mechanism of malformation formation.; Changed rating: GREEN; Changed publications: 29174369, 34040190, 37641480, 38431221
Vascular Malformations_Somatic v1.10 MAP3K3 Zornitza Stark Phenotypes for gene: MAP3K3 were changed from Verrucous venous malformation to Verrucous venous malformation; Cerebral malformation, MONDO:0016054, MAP3K3-related
Vascular Malformations_Somatic v1.9 MAP3K3 Zornitza Stark Publications for gene: MAP3K3 were set to 10700190; 25728774
Vascular Malformations_Somatic v1.8 MAP3K3 Naomi Baker reviewed gene: MAP3K3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33729480, 35355835, 33891857, 36995941; Phenotypes: Cerebral malformation, MONDO:0016054, MAP3K3-related; Mode of inheritance: Other
Vascular Malformations_Somatic v1.8 Zornitza Stark List of related panels changed from to Abnormal vascular morphology HP:0025015
Vascular Malformations_Somatic v1.7 GNB2 Zornitza Stark Marked gene: GNB2 as ready
Vascular Malformations_Somatic v1.7 GNB2 Zornitza Stark Gene: gnb2 has been classified as Red List (Low Evidence).
Vascular Malformations_Somatic v1.7 GNB2 Zornitza Stark gene: GNB2 was added
gene: GNB2 was added to Vascular Malformations_Somatic. Sources: Literature
somatic tags were added to gene: GNB2.
Mode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNB2 were set to 34124757
Phenotypes for gene: GNB2 were set to Sturge-Weber syndrome, somatic, mosaic
Mode of pathogenicity for gene: GNB2 was set to Other
Review for gene: GNB2 was set to RED
Added comment: PMID: 34124757 Fjaer et al 2021 report 1 case of a patient with phenotypic features of Sturge–Weber syndrome (skin legion on left eyelid, nose and brow, mild intellectual disability, refractory eplipsy, left-sided leptomeningeal vascular malformation and atrophy, no eye abnormality) and a variant in GNB2 (NM_005273.3):c.232A>G:p.Lys78Glu, which was present in 6% of the reads from the lesional dermis and 21% of the reads in an endothelial culture from the biopsy, but only present at 0.15% of the reads in non-lesional dermis. The patient was negative for the GNAQ R183Q variant more frequently associated with Sturge–Weber syndrome.
Sources: Literature
Vascular Malformations_Somatic v1.6 EPHB4 Bryony Thompson Marked gene: EPHB4 as ready
Vascular Malformations_Somatic v1.6 EPHB4 Bryony Thompson Gene: ephb4 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Somatic v1.6 EPHB4 Bryony Thompson Classified gene: EPHB4 as Amber List (moderate evidence)
Vascular Malformations_Somatic v1.6 EPHB4 Bryony Thompson Gene: ephb4 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Somatic v1.5 EPHB4 Bryony Thompson gene: EPHB4 was added
gene: EPHB4 was added to Vascular Malformations_Somatic. Sources: Other
Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EPHB4 were set to 31300548; 30760892
Phenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation
Review for gene: EPHB4 was set to AMBER
Added comment: A single CV-AVM case has been reported with mosaicism of an EPHB4 variant. Mosaicism has also been reported for the other CV-AVM gene, RASA1.
Sources: Other
Vascular Malformations_Somatic v1.4 GJA4 Bryony Thompson changed review comment from: Recurrent somatic GJA4 c.121G>T (p.Gly41Cys) mutation as a driver of hepatic (n=12) and cutaneous (n=5) vascular malformations. Induced changes in cell morphology and activated serum/glucocorticoid-regulated kinase 1 (SGK1), a serine/threonine kinase known to regulate cell proliferation and apoptosis, via non-canonical activation, in lentiviral transduction of primary human endothelial cells.
Sources: Literature; to: Recurrent somatic GJA4 c.121G>T (p.Gly41Cys) mutation as a driver of hepatic (n=12) and cutaneous (n=3) vascular malformations. Induced changes in cell morphology and activated serum/glucocorticoid-regulated kinase 1 (SGK1), a serine/threonine kinase known to regulate cell proliferation and apoptosis, via non-canonical activation, in lentiviral transduction of primary human endothelial cells.
Sources: Literature
Vascular Malformations_Somatic v1.4 GJA4 Bryony Thompson Classified gene: GJA4 as Green List (high evidence)
Vascular Malformations_Somatic v1.4 GJA4 Bryony Thompson Gene: gja4 has been classified as Green List (High Evidence).
Vascular Malformations_Somatic v1.3 GJA4 Bryony Thompson gene: GJA4 was added
gene: GJA4 was added to Vascular Malformations_Somatic. Sources: Literature
somatic tags were added to gene: GJA4.
Mode of inheritance for gene: GJA4 was set to Other
Publications for gene: GJA4 were set to https://doi.org/10.1016/j.xhgg.2021.100028
Phenotypes for gene: GJA4 were set to Cavernous hemangioma
Mode of pathogenicity for gene: GJA4 was set to Other
Review for gene: GJA4 was set to GREEN
Added comment: Recurrent somatic GJA4 c.121G>T (p.Gly41Cys) mutation as a driver of hepatic (n=12) and cutaneous (n=5) vascular malformations. Induced changes in cell morphology and activated serum/glucocorticoid-regulated kinase 1 (SGK1), a serine/threonine kinase known to regulate cell proliferation and apoptosis, via non-canonical activation, in lentiviral transduction of primary human endothelial cells.
Sources: Literature
Vascular Malformations_Somatic v1.2 MET Zornitza Stark Marked gene: MET as ready
Vascular Malformations_Somatic v1.2 MET Zornitza Stark Gene: met has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Somatic v1.2 MET Zornitza Stark Classified gene: MET as Amber List (moderate evidence)
Vascular Malformations_Somatic v1.2 MET Zornitza Stark Gene: met has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Somatic v1.1 MET Natasha Brown gene: MET was added
gene: MET was added to Vascular Malformations_Somatic. Sources: Literature
Mode of inheritance for gene: MET was set to Other
Publications for gene: MET were set to PMID: 32858245
Phenotypes for gene: MET were set to lymphovenous malformation; overgrowth
Mode of pathogenicity for gene: MET 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: MET was set to AMBER
Added comment: MET c.3029C>T p. (The1010Ile) found in three unrelated cases and
c.3082G>A; p.(Asp1028Asn) found in one case, via cfDNA analysis at very low allele fraction (<1%)

However authors state: The prevalence of the MET p.T1010I mutation in the population overall is 0.07% according to the Exome Aggregation Consortium and 1.1% in the European population.

1010 is located in exon 14, which is subjected to exon skipping in certain isoforms. Unclear if causative for this phenotype based on very low VAF and transcript/isoform issues, as well as population frequency.
Sources: Literature
Vascular Malformations_Somatic v1.0 Bryony Thompson promoted panel to version 1.0
Vascular Malformations_Somatic v0.16 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Vascular Malformations_Somatic v0.15 ACVRL1 Zornitza Stark Marked gene: ACVRL1 as ready
Vascular Malformations_Somatic v0.15 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence).
Vascular Malformations_Somatic v0.15 ACVRL1 Zornitza Stark Classified gene: ACVRL1 as Green List (high evidence)
Vascular Malformations_Somatic v0.15 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence).
Vascular Malformations_Somatic v0.14 AKT3 Zornitza Stark Marked gene: AKT3 as ready
Vascular Malformations_Somatic v0.14 AKT3 Zornitza Stark Gene: akt3 has been classified as Green List (High Evidence).
Vascular Malformations_Somatic v0.14 AKT3 Zornitza Stark Classified gene: AKT3 as Green List (high evidence)
Vascular Malformations_Somatic v0.14 AKT3 Zornitza Stark Gene: akt3 has been classified as Green List (High Evidence).
Vascular Malformations_Somatic v0.13 ENG Zornitza Stark Marked gene: ENG as ready
Vascular Malformations_Somatic v0.13 ENG Zornitza Stark Gene: eng has been classified as Green List (High Evidence).
Vascular Malformations_Somatic v0.13 ENG Zornitza Stark Classified gene: ENG as Green List (high evidence)
Vascular Malformations_Somatic v0.13 ENG Zornitza Stark Gene: eng has been classified as Green List (High Evidence).
Vascular Malformations_Somatic v0.12 GLMN Zornitza Stark Marked gene: GLMN as ready
Vascular Malformations_Somatic v0.12 GLMN Zornitza Stark Gene: glmn has been classified as Green List (High Evidence).
Vascular Malformations_Somatic v0.12 GLMN Zornitza Stark Classified gene: GLMN as Green List (high evidence)
Vascular Malformations_Somatic v0.12 GLMN Zornitza Stark Gene: glmn has been classified as Green List (High Evidence).
Vascular Malformations_Somatic v0.11 RASA1 Zornitza Stark Marked gene: RASA1 as ready
Vascular Malformations_Somatic v0.11 RASA1 Zornitza Stark Gene: rasa1 has been classified as Green List (High Evidence).
Vascular Malformations_Somatic v0.11 RASA1 Zornitza Stark Classified gene: RASA1 as Green List (high evidence)
Vascular Malformations_Somatic v0.11 RASA1 Zornitza Stark Gene: rasa1 has been classified as Green List (High Evidence).
Vascular Malformations_Somatic v0.10 TEK Zornitza Stark Marked gene: TEK as ready
Vascular Malformations_Somatic v0.10 TEK Zornitza Stark Gene: tek has been classified as Green List (High Evidence).
Vascular Malformations_Somatic v0.10 TEK Zornitza Stark Classified gene: TEK as Green List (high evidence)
Vascular Malformations_Somatic v0.10 TEK Zornitza Stark Gene: tek has been classified as Green List (High Evidence).
Vascular Malformations_Somatic v0.9 TEK Chris Richmond gene: TEK was added
gene: TEK was added to Vascular Malformations_Somatic. Sources: Expert Review
Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TEK were set to 27519652
Phenotypes for gene: TEK were set to Venous malformations, multiple cutaneous and mucosal (600195); Blue rubber bleb naevus syndrome; Sporadic multifocal vascular malformations
Penetrance for gene: TEK were set to unknown
Mode of pathogenicity for gene: TEK 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: TEK was set to GREEN
Added comment: Gain of function. Germline:

Somatic: Blue Rubber Bleb Naevus Syndrome
PMID 27519652: "Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations" group studied tissue from 17 individuals with blue rubber bleb nevus and six individuals with sporadic multifocal vascular malformations. They found that most (13 of 15) individuals with blue rubber bleb nevus had tissue double mutations (i.e., two somatic TEK mutations); 10 of these double mutations were in cis, and in the other tissues the allelism could not be determined. Double and cis mutations were present in most sporadic multifocal vascular malformations as well.
Sources: Expert Review
Vascular Malformations_Somatic v0.9 RASA1 Chris Richmond gene: RASA1 was added
gene: RASA1 was added to Vascular Malformations_Somatic. Sources: Expert Review
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RASA1 were set to 31300548; 30635911
Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation 1 (608354)
Penetrance for gene: RASA1 were set to Incomplete
Review for gene: RASA1 was set to GREEN
Added comment: PMID: 31300548: "Four distinct mosaic RASA1 mutations, with an allele frequency ranging from 3% to 25%, were identified in four index patients with classical capillary malformation-arteriovenous malformation phenotype. Three mutations were known, one was novel. In one patient, a somatic second hit was also identified. One index case had three affected children, illustrating that the mosaicism was also present in the germline."

PMID 30635911: "Both patients showed different nonsense RASA1 variants in mosaic, ranging from 7% to 21.5%, in blood samples and in the corresponding affected tissue sample from one of the patients. In conclusion, we report for the first time the presence of RASA1 constitutional mosaicism in CM-AVM. "
Sources: Expert Review
Vascular Malformations_Somatic v0.9 GLMN Chris Richmond gene: GLMN was added
gene: GLMN was added to Vascular Malformations_Somatic. Sources: Expert Review
Mode of inheritance for gene: GLMN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GLMN were set to 11845407
Phenotypes for gene: GLMN were set to Glomuvenous malformations (138000)
Penetrance for gene: GLMN were set to unknown
Review for gene: GLMN was set to GREEN
Added comment: Loss of function. Likely requires second hit for development of GVM: eg germline with second somatic hit (11845407)
Sources: Expert Review
Vascular Malformations_Somatic v0.9 AKT3 Chris Richmond reviewed gene: AKT3: 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: 22500628, 22729223; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (615937); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Somatic v0.9 AKT3 Chris Richmond Deleted their review
Vascular Malformations_Somatic v0.9 AKT3 Chris Richmond gene: AKT3 was added
gene: AKT3 was added to Vascular Malformations_Somatic. Sources: Expert Review
Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Phenotypes for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (615937)
Penetrance for gene: AKT3 were set to unknown
Mode of pathogenicity for gene: AKT3 was set to Other
Review for gene: AKT3 was set to GREEN
gene: AKT3 was marked as current diagnostic
Added comment: Gain of function. "De Novo Somatic Mutations in Components of the PI3K-AKT3-mTOR Pathway Cause Hemimegalencephaly" (PMID 22729223)
Sources: Expert Review
Vascular Malformations_Somatic v0.9 ACVRL1 Chris Richmond gene: ACVRL1 was added
gene: ACVRL1 was added to Vascular Malformations_Somatic. Sources: Expert Review
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACVRL1 were set to 21378382
Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 (600376)
Penetrance for gene: ACVRL1 were set to unknown
Review for gene: ACVRL1 was set to GREEN
gene: ACVRL1 was marked as current diagnostic
Added comment: Primarily germline, but mosaic cases reported
Sources: Expert Review
Vascular Malformations_Somatic v0.9 ENG Chris Richmond gene: ENG was added
gene: ENG was added to Vascular Malformations_Somatic. Sources: Expert Review
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ENG were set to 21378382
Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 2 (600376)
Penetrance for gene: ENG were set to unknown
Review for gene: ENG was set to GREEN
Added comment: Primarily germline, but mosaic cases reported (21378382)
Sources: Expert Review
Vascular Malformations_Somatic v0.9 MTOR Bryony Thompson changed review comment from: Comment on list classification: Vascular malformations are not a prominent feature of the condition caused by germline variants in this gene. Somatic activating mutations are possibly associated with vascular malformations, thus this gene is not suitable for a germline testing panel.; to: Comment on list classification: Vascular malformations are not a prominent feature of the condition caused by germline variants in this gene. Somatic activating mutations are possibly associated with vascular malformations.
Vascular Malformations_Somatic v0.9 NRAS Bryony Thompson Deleted their comment
Vascular Malformations_Somatic v0.9 MAP3K3 Bryony Thompson Deleted their comment
Vascular Malformations_Somatic v0.9 MAP2K1 Bryony Thompson Deleted their comment
Vascular Malformations_Somatic v0.9 KRAS Bryony Thompson Deleted their comment
Vascular Malformations_Somatic v0.9 KRAS Bryony Thompson changed review comment from: Comment on list classification: Somatic activating mutations are the cause of vascular malformations in this gene, thus it is not suitable to include on a germline testing panel.; to: Comment on list classification: Somatic activating mutations are the cause of vascular malformations in this gene.
Vascular Malformations_Somatic v0.9 HRAS Bryony Thompson changed review comment from: Comment on list classification: Somatic activating mutations cause vascular malformations, which is not really appropriate for a germline testing panel; to: Comment on list classification: Somatic activating mutations cause vascular malformations.
Vascular Malformations_Somatic v0.9 GNAQ Bryony Thompson changed review comment from: Comment on list classification: Somatic mutation only causes vascular malformations. Not really suitable for a germline testing panel.; to: Comment on list classification: Somatic mutation only causes vascular malformations.
Vascular Malformations_Somatic v0.9 GNA14 Bryony Thompson changed review comment from: Comment on list classification: Somatic activating mutations have only been reported to cause vascular malformations. This gene is not really suitable for a germline testing panel.; to: Comment on list classification: Somatic activating mutations have only been reported to cause vascular malformations.
Vascular Malformations_Somatic v0.9 GNA11 Bryony Thompson Deleted their comment
Vascular Malformations_Somatic v0.9 BRAF Bryony Thompson changed review comment from: Comment on list classification: Somatic activating mutations only are associated with vascular malformations. Not really suitable for a germline testing panel.; to: Comment on list classification: Somatic activating mutations only are associated with vascular malformations.
Vascular Malformations_Somatic v0.9 AKT1 Bryony Thompson changed review comment from: Comment on list classification: Somatic variants have been reported in association with vascular malformation. This gene is probably not suitable for a germline testing panel.; to: Comment on list classification: Somatic variants have been reported in association with vascular malformation.
Vascular Malformations_Somatic v0.9 KDR Zornitza Stark gene: KDR was added
gene: KDR was added to Vascular Malformations_Somatic. Sources: Expert list
Mode of inheritance for gene: KDR was set to Other
Publications for gene: KDR were set to 11807987; 18931684
Phenotypes for gene: KDR were set to Hemangioma, capillary infantile, somatic, MIM# 602089
Review for gene: KDR was set to RED
Added comment: Limited reports, may be susceptibility factor.
Sources: Expert list
Vascular Malformations_Somatic v0.8 PIK3CA Zornitza Stark Marked gene: PIK3CA as ready
Vascular Malformations_Somatic v0.8 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Green List (High Evidence).
Vascular Malformations_Somatic v0.8 PIK3CA Zornitza Stark Classified gene: PIK3CA as Green List (high evidence)
Vascular Malformations_Somatic v0.8 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Green List (High Evidence).
Vascular Malformations_Somatic v0.7 PIK3CA Zornitza Stark gene: PIK3CA was added
gene: PIK3CA was added to Vascular Malformations_Somatic. Sources: Expert list
Mode of inheritance for gene: PIK3CA was set to Other
Publications for gene: PIK3CA were set to 22729224; 23246288
Phenotypes for gene: PIK3CA were set to Megalencephaly-capillary malformation (MCAP) syndrome; Cowden syndrome 5 615108
Mode of pathogenicity for gene: PIK3CA 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: PIK3CA was set to GREEN
Added comment: Somatic activating mutaitons are the main cause of vascular malformations, though note four individuals with germline variants have been reported, hence gene is on both somatic and germline panels.
Sources: Expert list
Vascular Malformations_Somatic v0.6 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Vascular Malformations_Somatic v0.5 SOS1 Zornitza Stark Marked gene: SOS1 as ready
Vascular Malformations_Somatic v0.5 SOS1 Zornitza Stark Gene: sos1 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Somatic v0.5 SOS1 Zornitza Stark Classified gene: SOS1 as Amber List (moderate evidence)
Vascular Malformations_Somatic v0.5 SOS1 Zornitza Stark Gene: sos1 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Somatic v0.4 PIK3R1 Zornitza Stark Marked gene: PIK3R1 as ready
Vascular Malformations_Somatic v0.4 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Red List (Low Evidence).
Vascular Malformations_Somatic v0.4 PIK3R1 Zornitza Stark Classified gene: PIK3R1 as Red List (low evidence)
Vascular Malformations_Somatic v0.4 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Red List (Low Evidence).
Vascular Malformations_Somatic v0.3 NRAS Zornitza Stark Marked gene: NRAS as ready
Vascular Malformations_Somatic v0.3 NRAS Zornitza Stark Gene: nras has been classified as Green List (High Evidence).
Vascular Malformations_Somatic v0.3 NRAS Zornitza Stark Tag somatic tag was added to gene: NRAS.
Vascular Malformations_Somatic v0.3 MTOR Zornitza Stark Marked gene: MTOR as ready
Vascular Malformations_Somatic v0.3 MTOR Zornitza Stark Gene: mtor has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Somatic v0.3 MTOR Zornitza Stark Classified gene: MTOR as Amber List (moderate evidence)
Vascular Malformations_Somatic v0.3 MTOR Zornitza Stark Gene: mtor has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Somatic v0.2 MAP3K3 Zornitza Stark Marked gene: MAP3K3 as ready
Vascular Malformations_Somatic v0.2 MAP3K3 Zornitza Stark Gene: map3k3 has been classified as Green List (High Evidence).
Vascular Malformations_Somatic v0.2 MAP3K3 Zornitza Stark Tag somatic tag was added to gene: MAP3K3.
Vascular Malformations_Somatic v0.2 MAP2K1 Zornitza Stark Marked gene: MAP2K1 as ready
Vascular Malformations_Somatic v0.2 MAP2K1 Zornitza Stark Gene: map2k1 has been classified as Green List (High Evidence).
Vascular Malformations_Somatic v0.2 MAP2K1 Zornitza Stark Tag somatic tag was added to gene: MAP2K1.
Vascular Malformations_Somatic v0.2 KRAS Zornitza Stark Marked gene: KRAS as ready
Vascular Malformations_Somatic v0.2 KRAS Zornitza Stark Gene: kras has been classified as Green List (High Evidence).
Vascular Malformations_Somatic v0.2 KRAS Zornitza Stark Tag somatic tag was added to gene: KRAS.
Vascular Malformations_Somatic v0.2 HRAS Zornitza Stark Marked gene: HRAS as ready
Vascular Malformations_Somatic v0.2 HRAS Zornitza Stark Gene: hras has been classified as Green List (High Evidence).
Vascular Malformations_Somatic v0.2 HRAS Zornitza Stark Tag somatic tag was added to gene: HRAS.
Vascular Malformations_Somatic v0.2 GNAQ Zornitza Stark Marked gene: GNAQ as ready
Vascular Malformations_Somatic v0.2 GNAQ Zornitza Stark Gene: gnaq has been classified as Green List (High Evidence).
Vascular Malformations_Somatic v0.2 GNAQ Zornitza Stark Tag somatic tag was added to gene: GNAQ.
Vascular Malformations_Somatic v0.2 GNA14 Zornitza Stark Marked gene: GNA14 as ready
Vascular Malformations_Somatic v0.2 GNA14 Zornitza Stark Gene: gna14 has been classified as Green List (High Evidence).
Vascular Malformations_Somatic v0.2 GNA14 Zornitza Stark Tag somatic tag was added to gene: GNA14.
Vascular Malformations_Somatic v0.2 GNA11 Zornitza Stark Marked gene: GNA11 as ready
Vascular Malformations_Somatic v0.2 GNA11 Zornitza Stark Gene: gna11 has been classified as Green List (High Evidence).
Vascular Malformations_Somatic v0.2 GNA11 Zornitza Stark Phenotypes for gene: GNA11 were changed from Somatic hemangioma to Somatic hemangioma; Phacomatosis pigmentovascularis, somatic
Vascular Malformations_Somatic v0.1 GNA11 Zornitza Stark Tag somatic tag was added to gene: GNA11.
Vascular Malformations_Somatic v0.1 BRAF Zornitza Stark Marked gene: BRAF as ready
Vascular Malformations_Somatic v0.1 BRAF Zornitza Stark Gene: braf has been classified as Green List (High Evidence).
Vascular Malformations_Somatic v0.1 BRAF Zornitza Stark Tag somatic tag was added to gene: BRAF.
Vascular Malformations_Somatic v0.1 AKT1 Zornitza Stark Marked gene: AKT1 as ready
Vascular Malformations_Somatic v0.1 AKT1 Zornitza Stark Gene: akt1 has been classified as Green List (High Evidence).
Vascular Malformations_Somatic v0.1 AKT1 Zornitza Stark Tag somatic tag was added to gene: AKT1.
Vascular Malformations_Somatic v0.0 SOS1 Zornitza Stark gene: SOS1 was added
gene: SOS1 was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOS1 were set to 29907801
Phenotypes for gene: SOS1 were set to Noonan syndrome 4 610733
Vascular Malformations_Somatic v0.0 PIK3R1 Zornitza Stark gene: PIK3R1 was added
gene: PIK3R1 was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: PIK3R1 was set to Other
Publications for gene: PIK3R1 were set to 29174369
Phenotypes for gene: PIK3R1 were set to capillary and lymphatic malformation
Vascular Malformations_Somatic v0.0 NRAS Zornitza Stark gene: NRAS was added
gene: NRAS was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: NRAS was set to Other
Publications for gene: NRAS were set to 30542204; 29461977
Phenotypes for gene: NRAS were set to Kaposiform lymphangiomatosis; Sporadic vascular malformation
Mode of pathogenicity for gene: NRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Vascular Malformations_Somatic v0.0 MTOR Zornitza Stark gene: MTOR was added
gene: MTOR was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: MTOR was set to Other
Publications for gene: MTOR were set to 29174369; 28892148
Phenotypes for gene: MTOR were set to Smith-Kingsmore syndrome 616638; Focal cortical dysplasia, type II, somatic 607341
Mode of pathogenicity for gene: MTOR was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Vascular Malformations_Somatic v0.0 MAP3K3 Zornitza Stark gene: MAP3K3 was added
gene: MAP3K3 was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: MAP3K3 was set to Other
Publications for gene: MAP3K3 were set to 10700190; 25728774
Phenotypes for gene: MAP3K3 were set to Verrucous venous malformation
Vascular Malformations_Somatic v0.0 MAP2K1 Zornitza Stark gene: MAP2K1 was added
gene: MAP2K1 was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: MAP2K1 was set to Other
Publications for gene: MAP2K1 were set to 31486960; 28190454; 29461977
Phenotypes for gene: MAP2K1 were set to Arteriovenous malformation; Intramuscular fast-flow vascular anomaly
Mode of pathogenicity for gene: MAP2K1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Vascular Malformations_Somatic v0.0 KRAS Zornitza Stark gene: KRAS was added
gene: KRAS was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: KRAS was set to Other
Publications for gene: KRAS were set to 30677207; 30544177; 31160609
Phenotypes for gene: KRAS were set to Arteriovenous malformation of the brain, somatic 108010; Vascular malformation
Mode of pathogenicity for gene: KRAS was set to Other
Vascular Malformations_Somatic v0.0 HRAS Zornitza Stark gene: HRAS was added
gene: HRAS was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: HRAS was set to Other
Publications for gene: HRAS were set to 31160609; 31637524; 30208313
Phenotypes for gene: HRAS were set to Vascular malformation/overgrowth syndromes; Extracranial arteriovenous malformations
Mode of pathogenicity for gene: HRAS was set to Other
Vascular Malformations_Somatic v0.0 GNAQ Zornitza Stark gene: GNAQ was added
gene: GNAQ was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: GNAQ was set to Other
Publications for gene: GNAQ were set to 30920161
Phenotypes for gene: GNAQ were set to Sturge-Weber syndrome, somatic, mosaic 185300; Capillary malformations, congenital, 1, somatic, mosaic 163000; Phacomatosis pigmentovascularis
Vascular Malformations_Somatic v0.0 GNA14 Zornitza Stark gene: GNA14 was added
gene: GNA14 was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: GNA14 was set to Other
Publications for gene: GNA14 were set to 31423605; 31707589; 27476652
Phenotypes for gene: GNA14 were set to Tufted angioma; vascular tumours; Anastomosing hemangioma
Mode of pathogenicity for gene: GNA14 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Vascular Malformations_Somatic v0.0 GNA11 Zornitza Stark gene: GNA11 was added
gene: GNA11 was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: GNA11 was set to Other
Publications for gene: GNA11 were set to 30677207
Phenotypes for gene: GNA11 were set to Somatic hemangioma
Mode of pathogenicity for gene: GNA11 was set to Other
Vascular Malformations_Somatic v0.0 BRAF Zornitza Stark gene: BRAF was added
gene: BRAF was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: BRAF was set to Other
Publications for gene: BRAF were set to 29316280; 30544177; 29461977
Phenotypes for gene: BRAF were set to Sporadic vascular malformations
Mode of pathogenicity for gene: BRAF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Vascular Malformations_Somatic v0.0 AKT1 Zornitza Stark gene: AKT1 was added
gene: AKT1 was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green
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 Cowden syndrome 6 615109; Proteus syndrome, somatic 176920
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
Vascular Malformations_Somatic v0.0 Zornitza Stark Added panel Vascular Malformations_Somatic