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Vascular Malformations_Germline v1.12 LRRC8C Zornitza Stark Marked gene: LRRC8C as ready
Vascular Malformations_Germline v1.12 LRRC8C Zornitza Stark Gene: lrrc8c has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v1.12 LRRC8C Zornitza Stark Classified gene: LRRC8C as Amber List (moderate evidence)
Vascular Malformations_Germline v1.12 LRRC8C Zornitza Stark Gene: lrrc8c has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v1.11 LRRC8C Sangavi Sivagnanasundram gene: LRRC8C was added
gene: LRRC8C was added to Vascular Malformations_Germline. Sources: Literature
Mode of inheritance for gene: LRRC8C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LRRC8C were set to 39623139
Phenotypes for gene: LRRC8C were set to TIMES syndrome MIM#621056
Mode of pathogenicity for gene: LRRC8C was set to Other
Review for gene: LRRC8C was set to AMBER
Added comment: TIMES syndrome is a multisystem disorder characterised by considerable phenotypic variability, but overlapping features include telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature. Patients exhibit striking cutis marmorata in infancy.

Two individuals from unrelated families presenting with similar features consistent with TIMES syndrome.
Leu400IlefsTer8 and Val390Leu variants were identified however the proposed mechanism of disease is GoF.
Supporting in vitro functional assay was conducted however further evidence is required to upgrade the gene classification.
Sources: Literature
Vascular Malformations_Germline v1.11 GPRASP1 Elena Savva Marked gene: GPRASP1 as ready
Vascular Malformations_Germline v1.11 GPRASP1 Elena Savva Gene: gprasp1 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v1.11 GPRASP1 Elena Savva Classified gene: GPRASP1 as Amber List (moderate evidence)
Vascular Malformations_Germline v1.11 GPRASP1 Elena Savva Gene: gprasp1 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v1.10 GPRASP1 Paul De Fazio gene: GPRASP1 was added
gene: GPRASP1 was added to Vascular Malformations_Germline. Sources: Literature
Mode of inheritance for gene: GPRASP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GPRASP1 were set to 37787182
Phenotypes for gene: GPRASP1 were set to Arteriovenous hemangioma/malformation, GPRASP1-related, MONDO:0001256
Penetrance for gene: GPRASP1 were set to unknown
Review for gene: GPRASP1 was set to AMBER
gene: GPRASP1 was marked as current diagnostic
Added comment: Two hemizygous germline missense variants, p.Arg1167Trp and p.Trp553Cys, were identified in three male patients presenting with spinal AVM, Cobb syndrome, or scalp AVM. The variants were inherited from unaffected heterozygous mothers. Note that p.Arg1167Trp has hemizygous (>70) and homozygous individuals reported in gnomAD.

The variants were found to result in LoF in endothelial cells. Endothelial Gprasp1 knockout mice suffered a high probability of cerebral hemorrhage, AVMs, and exhibited vascular anomalies in multiple organs.
Sources: Literature
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 v1.10 Zornitza Stark List of related panels changed from to Abnormal vascular morphology HP:0025015
Vascular Malformations_Germline v1.9 PDGFRB Bryony Thompson Classified gene: PDGFRB as Green List (high evidence)
Vascular Malformations_Germline v1.9 PDGFRB Bryony Thompson Gene: pdgfrb has been classified as Green List (High Evidence).
Vascular Malformations_Germline v1.8 GDF2 Bryony Thompson Phenotypes for gene: GDF2 were changed from Telangiectasia, hereditary hemorrhagic, type 5 615506 to Telangiectasia, hereditary hemorrhagic, type 5 615506; pulmonary arteriovenous malformations
Vascular Malformations_Germline v1.7 GDF2 Bryony Thompson Publications for gene: GDF2 were set to 23972370
Vascular Malformations_Germline v1.6 GDF2 Bryony Thompson Mode of inheritance for gene: GDF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Vascular Malformations_Germline v1.5 GDF2 Bryony Thompson Classified gene: GDF2 as Green List (high evidence)
Vascular Malformations_Germline v1.5 GDF2 Bryony Thompson Gene: gdf2 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v1.4 GDF2 Bryony Thompson reviewed gene: GDF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23972370, 27081547, 32573726, 32992168, 34611981, 33834622, 32669404, 26056270, 23972370, https://doi.org/10.1164/ajrccm-conference.2020.201.1_MeetingAbstracts.A6356; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 5 615506, pulmonary arteriovenous malformations; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Vascular Malformations_Germline v1.4 ARL6IP6 Bryony Thompson Marked gene: ARL6IP6 as ready
Vascular Malformations_Germline v1.4 ARL6IP6 Bryony Thompson Gene: arl6ip6 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v1.4 ARL6IP6 Bryony Thompson gene: ARL6IP6 was added
gene: ARL6IP6 was added to Vascular Malformations_Germline. Sources: Other
Mode of inheritance for gene: ARL6IP6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL6IP6 were set to 31142202
Phenotypes for gene: ARL6IP6 were set to Cutis marmorata telangiectatica congenita
Review for gene: ARL6IP6 was set to RED
Added comment: A single case reported from a consanguineous family with a homozygous nonsense variant (p.Trp64Ter).
Sources: Other
Vascular Malformations_Germline v1.3 GPAA1 Bryony Thompson Marked gene: GPAA1 as ready
Vascular Malformations_Germline v1.3 GPAA1 Bryony Thompson Gene: gpaa1 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v1.3 GPAA1 Bryony Thompson Classified gene: GPAA1 as Amber List (moderate evidence)
Vascular Malformations_Germline v1.3 GPAA1 Bryony Thompson Gene: gpaa1 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v1.2 GPAA1 Bryony Thompson gene: GPAA1 was added
gene: GPAA1 was added to Vascular Malformations_Germline. Sources: Literature
Mode of inheritance for gene: GPAA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GPAA1 were set to 32533362
Phenotypes for gene: GPAA1 were set to Vascular anomalies
Review for gene: GPAA1 was set to AMBER
Added comment: A single family identified with a GPAA1 missense (c.968A > G; p.Asn323Ser) segregating in 4 affected individuals and not among 6 unaffected individuals. Also, supporting in vitro functional assays for the variant impacting function and a gpaa1-deficient zebrafish model displaying several types of developmental defects as well as vascular dysplasia.
Sources: Literature
Vascular Malformations_Germline v1.1 PDGFRB Natasha Brown gene: PDGFRB was added
gene: PDGFRB was added to Vascular Malformations_Germline. Sources: Literature
Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDGFRB were set to PMID: 33683022; 32291752
Phenotypes for gene: PDGFRB were set to aneurysm; scoliosis; atrophic skin; stroke; infantile myofibromatosis
Mode of pathogenicity for gene: PDGFRB 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: PDGFRB was set to GREEN
Added comment: PMID: 33683022 describes 2 new cases of somatic mosaic variants in this gene with connective tissue/Marfanoid/progeriod phenotypes plus overgrowth (multiple aneurysms, varicosities, increased skin elasticity, pulmonary cysts), the same missense variant present in both patients in tissue (PDGFRB (NM_002609.3) c.1685A > G, p.(Tyr562Cys)).
PMID: 32291752 Three unrelated cases with heterozygous activating germline variants reviewed with similar phenotypes to above including early onset stroke/aneurysm.
Sources: Literature
Vascular Malformations_Germline v1.0 Zornitza Stark promoted panel to version 1.0
Vascular Malformations_Germline v0.124 TEK Zornitza Stark Publications for gene: TEK were set to
Vascular Malformations_Germline v0.123 TEK Zornitza Stark reviewed gene: TEK: Rating: GREEN; Mode of pathogenicity: None; Publications: 19888299; Phenotypes: Venous malformations, multiple cutaneous and mucosal, MIM# 600195; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.123 SMAD4 Zornitza Stark Marked gene: SMAD4 as ready
Vascular Malformations_Germline v0.123 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.123 SMAD4 Zornitza Stark reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.121 GLMN Zornitza Stark Marked gene: GLMN as ready
Vascular Malformations_Germline v0.121 GLMN Zornitza Stark Gene: glmn has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.121 GLMN Zornitza Stark Phenotypes for gene: GLMN were changed from Glomuvenous malformations to Glomuvenous malformations, MIM# 138000
Vascular Malformations_Germline v0.120 GLMN Zornitza Stark Publications for gene: GLMN were set to
Vascular Malformations_Germline v0.119 GLMN Zornitza Stark reviewed gene: GLMN: Rating: GREEN; Mode of pathogenicity: None; Publications: 23375657, 30460983, 24961656; Phenotypes: Glomuvenous malformations, MIM# 138000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.119 ENG Zornitza Stark Marked gene: ENG as ready
Vascular Malformations_Germline v0.119 ENG Zornitza Stark Gene: eng has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.119 ENG Zornitza Stark Publications for gene: ENG were set to
Vascular Malformations_Germline v0.118 ENG Zornitza Stark reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16542389; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.118 ACVRL1 Zornitza Stark Publications for gene: ACVRL1 were set to
Vascular Malformations_Germline v0.117 ACVRL1 Zornitza Stark reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16542389; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.117 PIK3CA Zornitza Stark Marked gene: PIK3CA as ready
Vascular Malformations_Germline v0.117 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.117 PIK3CA Zornitza Stark Phenotypes for gene: PIK3CA were changed from Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome MIM#602501
Vascular Malformations_Germline v0.116 PIK3CA Zornitza Stark Publications for gene: PIK3CA were set to
Vascular Malformations_Germline v0.115 PIK3CA Zornitza Stark Mode of pathogenicity for gene: PIK3CA 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
Vascular Malformations_Germline v0.114 PIK3CA Zornitza Stark Mode of inheritance for gene: PIK3CA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.113 KRIT1 Zornitza Stark Tag founder tag was added to gene: KRIT1.
Vascular Malformations_Germline v0.113 KRIT1 Zornitza Stark changed review comment from: Mutations in KRIT1 are predominantly nonsense or frameshift mutations resulting in premature stop codons (PMID: 29593473). Incomplete penetrance observed in inherited CCM (PMID: 16571644; OMIM)

American-Hispanic founder mutation: c.1363C>T, p.Gln455*/Q248* (OMIM). Sardinian founder mutation: C329X (OMIM); to: American-Hispanic founder mutation: c.1363C>T, p.Gln455*/Q248* (OMIM). Sardinian founder mutation: C329X (OMIM)
Vascular Malformations_Germline v0.113 KRIT1 Zornitza Stark changed review comment from: Mutations in KRIT1 are predominantly nonsense or frameshift mutations resulting in premature stop codons (PMID: 29593473). Incomplete penetrance observed in inherited CCM (PMID: 16571644; OMIM); to: Mutations in KRIT1 are predominantly nonsense or frameshift mutations resulting in premature stop codons (PMID: 29593473). Incomplete penetrance observed in inherited CCM (PMID: 16571644; OMIM)

American-Hispanic founder mutation: c.1363C>T, p.Gln455*/Q248* (OMIM). Sardinian founder mutation: C329X (OMIM)
Vascular Malformations_Germline v0.113 EPHB4 Zornitza Stark Marked gene: EPHB4 as ready
Vascular Malformations_Germline v0.113 EPHB4 Zornitza Stark Gene: ephb4 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.113 EPHB4 Zornitza Stark Publications for gene: EPHB4 were set to
Vascular Malformations_Germline v0.112 EPHB4 Zornitza Stark Mode of inheritance for gene: EPHB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.111 EPHB4 Kristin Rigbye reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27400125, 28687708, 29444212, 29905864, 30578106, 30819650; Phenotypes: Capillary malformation-arteriovenous malformation 2 (MIM#618196), AD, Lymphatic malformation 7 (MIM#617300), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.110 STAMBP Zornitza Stark Marked gene: STAMBP as ready
Vascular Malformations_Germline v0.110 STAMBP Zornitza Stark Gene: stambp has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.110 STAMBP Zornitza Stark Phenotypes for gene: STAMBP were changed from Microcephaly-capillary malformation syndrome to Microcephaly-capillary malformation syndrome, MIM# 614261
Vascular Malformations_Germline v0.109 STAMBP Zornitza Stark Publications for gene: STAMBP were set to
Vascular Malformations_Germline v0.108 STAMBP Zornitza Stark reviewed gene: STAMBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23542699; Phenotypes: Microcephaly-capillary malformation syndrome, MIM# 614261; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vascular Malformations_Germline v0.108 SOX18 Zornitza Stark Marked gene: SOX18 as ready
Vascular Malformations_Germline v0.108 SOX18 Zornitza Stark Gene: sox18 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.108 SOX18 Zornitza Stark Classified gene: SOX18 as Green List (high evidence)
Vascular Malformations_Germline v0.108 SOX18 Zornitza Stark Gene: sox18 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.107 SOX18 Zornitza Stark gene: SOX18 was added
gene: SOX18 was added to Vascular Malformations_Germline. Sources: Expert list
Mode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SOX18 were set to 12740761; 24697860; 2484451; 26148450
Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940
Review for gene: SOX18 was set to GREEN
Added comment: Both mono allelic and bi-allelic variants reported.
Sources: Expert list
Vascular Malformations_Germline v0.106 PDCD10 Zornitza Stark Marked gene: PDCD10 as ready
Vascular Malformations_Germline v0.106 PDCD10 Zornitza Stark Gene: pdcd10 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.106 PDCD10 Zornitza Stark Classified gene: PDCD10 as Amber List (moderate evidence)
Vascular Malformations_Germline v0.106 PDCD10 Zornitza Stark Gene: pdcd10 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.105 PDCD10 Zornitza Stark reviewed gene: PDCD10: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral cavernous malformations 3, MIM# 603285; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.105 GDF2 Zornitza Stark Classified gene: GDF2 as Red List (low evidence)
Vascular Malformations_Germline v0.105 GDF2 Zornitza Stark Gene: gdf2 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.104 GDF2 Zornitza Stark edited their review of gene: GDF2: Changed rating: RED
Vascular Malformations_Germline v0.104 GDF2 Zornitza Stark Marked gene: GDF2 as ready
Vascular Malformations_Germline v0.104 GDF2 Zornitza Stark Gene: gdf2 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.104 GDF2 Zornitza Stark Publications for gene: GDF2 were set to
Vascular Malformations_Germline v0.103 GDF2 Zornitza Stark Classified gene: GDF2 as Amber List (moderate evidence)
Vascular Malformations_Germline v0.103 GDF2 Zornitza Stark Gene: gdf2 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.102 GDF2 Zornitza Stark reviewed gene: GDF2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23972370; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 5, MIM# 615506; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.102 CCM2 Zornitza Stark Marked gene: CCM2 as ready
Vascular Malformations_Germline v0.102 CCM2 Zornitza Stark Gene: ccm2 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.102 CCM2 Zornitza Stark Phenotypes for gene: CCM2 were changed from Cerebral cavernous malformations to Cerebral cavernous malformations-2, MIM# 603284
Vascular Malformations_Germline v0.101 CCM2 Zornitza Stark Publications for gene: CCM2 were set to
Vascular Malformations_Germline v0.100 CCM2 Zornitza Stark Classified gene: CCM2 as Amber List (moderate evidence)
Vascular Malformations_Germline v0.100 CCM2 Zornitza Stark Gene: ccm2 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.99 CCM2 Zornitza Stark Tag SV/CNV tag was added to gene: CCM2.
Vascular Malformations_Germline v0.99 CCM2 Zornitza Stark reviewed gene: CCM2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21543988, 14624391; Phenotypes: Cerebral cavernous malformations-2, MIM# 603284; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.99 ATR Zornitza Stark Marked gene: ATR as ready
Vascular Malformations_Germline v0.99 ATR Zornitza Stark Gene: atr has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.99 ATR Zornitza Stark gene: ATR was added
gene: ATR was added to Vascular Malformations_Germline. Sources: Expert list
Mode of inheritance for gene: ATR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATR were set to 22341969
Phenotypes for gene: ATR were set to Cutaneous telangiectasia and cancer syndrome, familial, MIM# 614564
Review for gene: ATR was set to RED
Added comment: Single multigenerational family reported.
Sources: Expert list
Vascular Malformations_Germline v0.98 ATM Zornitza Stark Marked gene: ATM as ready
Vascular Malformations_Germline v0.98 ATM Zornitza Stark Gene: atm has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.98 ATM Zornitza Stark Classified gene: ATM as Green List (high evidence)
Vascular Malformations_Germline v0.98 ATM Zornitza Stark Gene: atm has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.97 ATM Zornitza Stark gene: ATM was added
gene: ATM was added to Vascular Malformations_Germline. Sources: Expert list
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Ataxia-telangiectasia, MIM# 208900
Review for gene: ATM was set to GREEN
Added comment: Cutaneous telangiectasia are a feature of this disorder.
Sources: Expert list
Vascular Malformations_Germline v0.96 Zornitza Stark Panel name changed from Inherited Vascular Malformations to Vascular Malformations_Germline
Vascular Malformations_Germline v0.95 AKT3 Zornitza Stark Marked gene: AKT3 as ready
Vascular Malformations_Germline v0.95 AKT3 Zornitza Stark Gene: akt3 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.95 AKT3 Zornitza Stark Classified gene: AKT3 as Green List (high evidence)
Vascular Malformations_Germline v0.95 AKT3 Zornitza Stark Gene: akt3 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.94 AKT3 Chris Richmond edited their review of gene: AKT3: Added comment: Established cause of Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (615937). Capillary malformations reported in PMID 23745724 & 22729224, both cases de novo AKT3 variants.; Changed rating: GREEN
Vascular Malformations_Germline v0.94 AKT3 Chris Richmond Deleted their comment
Vascular Malformations_Germline v0.94 AKT3 Chris Richmond gene: AKT3 was added
gene: AKT3 was added to Inherited Vascular Malformations. 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 23745724; 22729224
Phenotypes for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (615937)
Penetrance for gene: AKT3 were set to unknown
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
Added comment: Established cause of Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (615937). Capillary malformations reported in PMID 23745724 & 22729224, both cases de novo AKT3 variants.
Sources: Expert Review
Vascular Malformations_Germline v0.94 PTPN14 Zornitza Stark Publications for gene: PTPN14 were set to
Vascular Malformations_Germline v0.93 PTPN11 Zornitza Stark Marked gene: PTPN11 as ready
Vascular Malformations_Germline v0.93 PTPN11 Zornitza Stark Added comment: Comment when marking as ready: No evidence for association between germline variants and vascular malformations.
Vascular Malformations_Germline v0.93 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.93 PIK3R2 Zornitza Stark Marked gene: PIK3R2 as ready
Vascular Malformations_Germline v0.93 PIK3R2 Zornitza Stark Gene: pik3r2 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.93 PIK3R1 Zornitza Stark Marked gene: PIK3R1 as ready
Vascular Malformations_Germline v0.93 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.93 NRAS Zornitza Stark Marked gene: NRAS as ready
Vascular Malformations_Germline v0.93 NRAS Zornitza Stark Gene: nras has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.93 MTOR Zornitza Stark Marked gene: MTOR as ready
Vascular Malformations_Germline v0.93 MTOR Zornitza Stark Gene: mtor has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.93 MAP3K3 Zornitza Stark Marked gene: MAP3K3 as ready
Vascular Malformations_Germline v0.93 MAP3K3 Zornitza Stark Gene: map3k3 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.93 MAP2K1 Zornitza Stark Marked gene: MAP2K1 as ready
Vascular Malformations_Germline v0.93 MAP2K1 Zornitza Stark Gene: map2k1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.93 KRAS Zornitza Stark Marked gene: KRAS as ready
Vascular Malformations_Germline v0.93 KRAS Zornitza Stark Gene: kras has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.93 HRAS Zornitza Stark Marked gene: HRAS as ready
Vascular Malformations_Germline v0.93 HRAS Zornitza Stark Gene: hras has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.93 GNAQ Zornitza Stark Marked gene: GNAQ as ready
Vascular Malformations_Germline v0.93 GNAQ Zornitza Stark Gene: gnaq has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.93 GNA14 Zornitza Stark Marked gene: GNA14 as ready
Vascular Malformations_Germline v0.93 GNA14 Zornitza Stark Gene: gna14 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.93 GNA11 Zornitza Stark Marked gene: GNA11 as ready
Vascular Malformations_Germline v0.93 GNA11 Zornitza Stark Gene: gna11 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.93 GNA11 Zornitza Stark Mode of pathogenicity for gene: GNA11 was changed from to Other
Vascular Malformations_Germline v0.92 GNA11 Zornitza Stark Mode of inheritance for gene: GNA11 was changed from to Other
Vascular Malformations_Germline v0.91 BRAF Zornitza Stark Marked gene: BRAF as ready
Vascular Malformations_Germline v0.91 BRAF Zornitza Stark Gene: braf has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.91 AKT1 Zornitza Stark Marked gene: AKT1 as ready
Vascular Malformations_Germline v0.91 AKT1 Zornitza Stark Gene: akt1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.91 KDR Zornitza Stark Marked gene: KDR as ready
Vascular Malformations_Germline v0.91 KDR Zornitza Stark Gene: kdr has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.91 ELMO2 Zornitza Stark Marked gene: ELMO2 as ready
Vascular Malformations_Germline v0.91 ELMO2 Zornitza Stark Gene: elmo2 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.91 ELMO2 Zornitza Stark Publications for gene: ELMO2 were set to
Vascular Malformations_Germline v0.89 SOS1 Zornitza Stark Marked gene: SOS1 as ready
Vascular Malformations_Germline v0.89 SOS1 Zornitza Stark Added comment: Comment when marking as ready: Somatic variants in Rasopathy genes have been associated with vascular malformations.
Vascular Malformations_Germline v0.89 SOS1 Zornitza Stark Gene: sos1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.89 SOS1 Zornitza Stark Tag somatic tag was added to gene: SOS1.
Vascular Malformations_Germline v0.89 CDKN1C Zornitza Stark Marked gene: CDKN1C as ready
Vascular Malformations_Germline v0.89 CDKN1C Zornitza Stark Gene: cdkn1c has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.89 CDKN1C Zornitza Stark Phenotypes for gene: CDKN1C were changed from Beckwith-Wiedemann syndrome 130650; IMAGE syndrome 614732 to Beckwith-Wiedemann syndrome 130650
Vascular Malformations_Germline v0.88 CDKN1C Zornitza Stark Classified gene: CDKN1C as Amber List (moderate evidence)
Vascular Malformations_Germline v0.88 CDKN1C Zornitza Stark Gene: cdkn1c has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.87 CDKN1C Zornitza Stark reviewed gene: CDKN1C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Beckwith-Wiedemann syndrome, MIM# 130650; Mode of inheritance: None
Vascular Malformations_Germline v0.85 SOS1 Zornitza Stark Marked gene: SOS1 as ready
Vascular Malformations_Germline v0.85 SOS1 Zornitza Stark Gene: sos1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.84 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Vascular Malformations_Germline v0.83 RASA1 Zornitza Stark Marked gene: RASA1 as ready
Vascular Malformations_Germline v0.83 RASA1 Zornitza Stark Gene: rasa1 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.83 RASA1 Zornitza Stark Phenotypes for gene: RASA1 were changed from Capillary malformation-arteriovenous malformation 608354 to Capillary malformation-arteriovenous malformation, MIM# 608354
Vascular Malformations_Germline v0.82 RASA1 Zornitza Stark Publications for gene: RASA1 were set to
Vascular Malformations_Germline v0.81 RASA1 Zornitza Stark reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14639529, 29891884, 24038909, 31300548; Phenotypes: Capillary malformation-arteriovenous malformation 1, MIM#608354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.81 Bryony Thompson removed gene:GATA2 from the panel
Vascular Malformations_Germline v0.80 Bryony Thompson removed gene:FOXC2 from the panel
Vascular Malformations_Germline v0.79 Bryony Thompson removed gene:FLT4 from the panel
Vascular Malformations_Germline v0.78 Bryony Thompson removed gene:FAT4 from the panel
Vascular Malformations_Germline v0.77 Bryony Thompson removed gene:EIF2AK4 from the panel
Vascular Malformations_Germline v0.76 Bryony Thompson removed gene:CCBE1 from the panel
Vascular Malformations_Germline v0.75 Bryony Thompson removed gene:CAV1 from the panel
Vascular Malformations_Germline v0.74 Bryony Thompson removed gene:BMPR2 from the panel
Vascular Malformations_Germline v0.73 Bryony Thompson removed gene:GJC2 from the panel
Vascular Malformations_Germline v0.72 Bryony Thompson removed gene:KCNK3 from the panel
Vascular Malformations_Germline v0.71 Bryony Thompson removed gene:KIF11 from the panel
Vascular Malformations_Germline v0.70 Bryony Thompson removed gene:PIEZO1 from the panel
Vascular Malformations_Germline v0.69 PTPN11 Bryony Thompson edited their review of gene: PTPN11: Changed rating: RED
Vascular Malformations_Germline v0.69 PTPN11 Bryony Thompson changed review comment from: Comment on list classification: Paediatric gene that isn't suitable for testing of vascular malformations in an adult hospital; to: Comment on list classification: Paediatric gene that isn't suitable for testing of vascular malformations in an adult hospital
Vascular Malformations_Germline v0.69 Bryony Thompson removed gene:SMAD9 from the panel
Vascular Malformations_Germline v0.68 Bryony Thompson removed gene:SOX17 from the panel
Vascular Malformations_Germline v0.67 Bryony Thompson removed gene:SOX18 from the panel
Vascular Malformations_Germline v0.66 Bryony Thompson removed gene:TBX4 from the panel
Vascular Malformations_Germline v0.65 Bryony Thompson removed gene:BMPR1B from the panel
Vascular Malformations_Germline v0.64 Bryony Thompson removed gene:ATP13A3 from the panel
Vascular Malformations_Germline v0.63 Bryony Thompson removed gene:AQP1 from the panel
Vascular Malformations_Germline v0.62 Bryony Thompson Panel types changed to Royal Melbourne Hospital; Rare Disease
Vascular Malformations_Germline v0.61 KRIT1 Zornitza Stark Marked gene: KRIT1 as ready
Vascular Malformations_Germline v0.61 KRIT1 Zornitza Stark Gene: krit1 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.61 KRIT1 Zornitza Stark Publications for gene: KRIT1 were set to
Vascular Malformations_Germline v0.60 ACVRL1 Bryony Thompson Marked gene: ACVRL1 as ready
Vascular Malformations_Germline v0.60 ACVRL1 Bryony Thompson Gene: acvrl1 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.60 TEK Bryony Thompson Marked gene: TEK as ready
Vascular Malformations_Germline v0.60 TEK Bryony Thompson Gene: tek has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.60 KRIT1 Ee Ming Wong reviewed gene: KRIT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29593473, PMID: 16571644; Phenotypes: 1. Cavernous malformations of CNS and retina, 116860, AD, 2. Cerebral cavernous malformations-1, 116860, AD, 3. Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860, AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.60 SOX18 Bryony Thompson Classified gene: SOX18 as Red List (low evidence)
Vascular Malformations_Germline v0.60 SOX18 Bryony Thompson Added comment: Comment on list classification: On the lymphoedema panel instead
Vascular Malformations_Germline v0.60 SOX18 Bryony Thompson Gene: sox18 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.59 BMPR1B Bryony Thompson Classified gene: BMPR1B as Red List (low evidence)
Vascular Malformations_Germline v0.59 BMPR1B Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.59 BMPR1B Bryony Thompson Gene: bmpr1b has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.58 TBX4 Bryony Thompson Classified gene: TBX4 as Red List (low evidence)
Vascular Malformations_Germline v0.58 TBX4 Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.58 TBX4 Bryony Thompson Gene: tbx4 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.57 SOX17 Bryony Thompson Classified gene: SOX17 as Red List (low evidence)
Vascular Malformations_Germline v0.57 SOX17 Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.57 SOX17 Bryony Thompson Gene: sox17 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.56 SMAD9 Bryony Thompson Classified gene: SMAD9 as Red List (low evidence)
Vascular Malformations_Germline v0.56 SMAD9 Bryony Thompson Added comment: Comment on list classification: Moved to the pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.56 SMAD9 Bryony Thompson Gene: smad9 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.55 PTPN14 Bryony Thompson Marked gene: PTPN14 as ready
Vascular Malformations_Germline v0.55 PTPN14 Bryony Thompson Gene: ptpn14 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.55 PTPN14 Bryony Thompson Classified gene: PTPN14 as Red List (low evidence)
Vascular Malformations_Germline v0.55 PTPN14 Bryony Thompson Added comment: Comment on list classification: No evidence for vascular malformations. The gene has been added to the lymphoedema panel.
Vascular Malformations_Germline v0.55 PTPN14 Bryony Thompson Gene: ptpn14 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.54 PTPN14 Bryony Thompson reviewed gene: PTPN14: Rating: RED; Mode of pathogenicity: None; Publications: 22233626, 29932521; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vascular Malformations_Germline v0.54 PTPN14 Bryony Thompson Deleted their review
Vascular Malformations_Germline v0.54 PIEZO1 Bryony Thompson Classified gene: PIEZO1 as Red List (low evidence)
Vascular Malformations_Germline v0.54 PIEZO1 Bryony Thompson Added comment: Comment on list classification: On the lymphoedema panel instead
Vascular Malformations_Germline v0.54 PIEZO1 Bryony Thompson Gene: piezo1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.53 KIF11 Bryony Thompson Classified gene: KIF11 as Red List (low evidence)
Vascular Malformations_Germline v0.53 KIF11 Bryony Thompson Added comment: Comment on list classification: On the lymphoedema panel instead
Vascular Malformations_Germline v0.53 KIF11 Bryony Thompson Gene: kif11 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.52 KCNK3 Bryony Thompson Classified gene: KCNK3 as Red List (low evidence)
Vascular Malformations_Germline v0.52 KCNK3 Bryony Thompson Added comment: Comment on list classification: Moved to the Pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.52 KCNK3 Bryony Thompson Gene: kcnk3 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.51 GJC2 Bryony Thompson Classified gene: GJC2 as Red List (low evidence)
Vascular Malformations_Germline v0.51 GJC2 Bryony Thompson Added comment: Comment on list classification: On lymphoedema panel instead
Vascular Malformations_Germline v0.51 GJC2 Bryony Thompson Gene: gjc2 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.50 GATA2 Bryony Thompson Classified gene: GATA2 as Red List (low evidence)
Vascular Malformations_Germline v0.50 GATA2 Bryony Thompson Added comment: Comment on list classification: On lymphoedema panel instead
Vascular Malformations_Germline v0.50 GATA2 Bryony Thompson Gene: gata2 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.49 FOXC2 Bryony Thompson Classified gene: FOXC2 as Red List (low evidence)
Vascular Malformations_Germline v0.49 FOXC2 Bryony Thompson Added comment: Comment on list classification: On lymphoedema panel instead
Vascular Malformations_Germline v0.49 FOXC2 Bryony Thompson Gene: foxc2 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.48 FLT4 Bryony Thompson Classified gene: FLT4 as Red List (low evidence)
Vascular Malformations_Germline v0.48 FLT4 Bryony Thompson Added comment: Comment on list classification: On lymphoedema panel instead
Vascular Malformations_Germline v0.48 FLT4 Bryony Thompson Gene: flt4 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.47 FAT4 Bryony Thompson Classified gene: FAT4 as Red List (low evidence)
Vascular Malformations_Germline v0.47 FAT4 Bryony Thompson Added comment: Comment on list classification: On lymphoedema panel instead
Vascular Malformations_Germline v0.47 FAT4 Bryony Thompson Gene: fat4 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.46 EIF2AK4 Bryony Thompson Classified gene: EIF2AK4 as Red List (low evidence)
Vascular Malformations_Germline v0.46 EIF2AK4 Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.46 EIF2AK4 Bryony Thompson Gene: eif2ak4 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.45 CCBE1 Bryony Thompson Classified gene: CCBE1 as Red List (low evidence)
Vascular Malformations_Germline v0.45 CCBE1 Bryony Thompson Added comment: Comment on list classification: On lymphoedema panel instead
Vascular Malformations_Germline v0.45 CCBE1 Bryony Thompson Gene: ccbe1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.44 CAV1 Bryony Thompson Classified gene: CAV1 as Red List (low evidence)
Vascular Malformations_Germline v0.44 CAV1 Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.44 CAV1 Bryony Thompson Gene: cav1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.43 BMPR2 Bryony Thompson Classified gene: BMPR2 as Red List (low evidence)
Vascular Malformations_Germline v0.43 BMPR2 Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.43 BMPR2 Bryony Thompson Gene: bmpr2 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.42 ATP13A3 Bryony Thompson Classified gene: ATP13A3 as Red List (low evidence)
Vascular Malformations_Germline v0.42 ATP13A3 Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.42 ATP13A3 Bryony Thompson Gene: atp13a3 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.41 AQP1 Bryony Thompson Classified gene: AQP1 as Red List (low evidence)
Vascular Malformations_Germline v0.41 AQP1 Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.41 AQP1 Bryony Thompson Gene: aqp1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.39 SOS1 Bryony Thompson gene: SOS1 was added
gene: SOS1 was added to Inherited Vascular Malformations. Sources: Expert list
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
Review for gene: SOS1 was set to RED
Added comment: Cystic hygromas are not a prominent feature of SOS1 associated Noonan syndrome
Sources: Expert list
Vascular Malformations_Germline v0.38 PTPN14 Bryony Thompson Classified gene: PTPN14 as Green List (high evidence)
Vascular Malformations_Germline v0.38 PTPN14 Bryony Thompson Gene: ptpn14 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.37 PTPN14 Bryony Thompson gene: PTPN14 was added
gene: PTPN14 was added to Inherited Vascular Malformations. Sources: Expert list
Mode of inheritance for gene: PTPN14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTPN14 were set to Choanal atresia and lymphedema 613611
Review for gene: PTPN14 was set to GREEN
Added comment: Lymphedema is a prominent feature of the condition.
Sources: Expert list
Vascular Malformations_Germline v0.36 PTPN11 Bryony Thompson Classified gene: PTPN11 as Red List (low evidence)
Vascular Malformations_Germline v0.36 PTPN11 Bryony Thompson Added comment: Comment on list classification: Paediatric gene that isn't suitable for testing of vascular malformations in an adult hospital
Vascular Malformations_Germline v0.36 PTPN11 Bryony Thompson Gene: ptpn11 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.35 PTPN11 Bryony Thompson gene: PTPN11 was added
gene: PTPN11 was added to Inherited Vascular Malformations. Sources: Expert list
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PTPN11 were set to 27193571; 24939587; 29907801
Phenotypes for gene: PTPN11 were set to LEOPARD syndrome 1 151100; Noonan syndrome 1 163950; cystic hygroma
Review for gene: PTPN11 was set to GREEN
Added comment: A pathogenic de novo variant was identied in a case diagnosed with megalencephaly-capillary malformation (MCAP) syndrome. However, the cases also had a somatic mosaic variant in PIK3CA which is the usual cause of MCAP. One of the prominent features of Noonan syndrome caused by this gene is cystic hygromas.
Sources: Expert list
Vascular Malformations_Germline v0.34 PIK3R2 Bryony Thompson gene: PIK3R2 was added
gene: PIK3R2 was added to Inherited Vascular Malformations. Sources: Expert list
Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PIK3R2 were set to 22729224; 28502725
Phenotypes for gene: PIK3R2 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387
Review for gene: PIK3R2 was set to RED
Added comment: This condition (MPPH) lacks vascular malformations as a feature of the phenotype. Two variants were identified in the blood of two postnatal cases suspected of having mosaic overgrowth syndromes, but clinical indication for testing was not provided.
Sources: Expert list
Vascular Malformations_Germline v0.33 PIK3R1 Bryony Thompson Tag somatic tag was added to gene: PIK3R1.
Vascular Malformations_Germline v0.33 PIK3R1 Bryony Thompson gene: PIK3R1 was added
gene: PIK3R1 was added to Inherited Vascular Malformations. Sources: Expert list
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
Review for gene: PIK3R1 was set to RED
Added comment: A patient carrying a somatic PIK3R1 (p.K567E) variant demonstrated capillary malformation and lymphatic malformation, with mild, proportional overgrowth of one extremity. No other reports with vascular malformations/anomalies. Germline variants cause various conditions where vascular malformations are not a prominent feature.
Sources: Expert list
Vascular Malformations_Germline v0.32 PIK3CA Bryony Thompson Classified gene: PIK3CA as Green List (high evidence)
Vascular Malformations_Germline v0.32 PIK3CA Bryony Thompson Added comment: Comment on list classification: Somatic activating mutaitons are the main cause of vascular malformations, but four individuals with germline variants have been reported.
Vascular Malformations_Germline v0.32 PIK3CA Bryony Thompson Gene: pik3ca has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.31 PIK3CA Bryony Thompson Tag somatic tag was added to gene: PIK3CA.
Vascular Malformations_Germline v0.31 PIK3CA Bryony Thompson reviewed gene: PIK3CA: 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: 22729224, 23246288; Phenotypes: Megalencephaly-capillary malformation (MCAP) syndrome, Cowden syndrome 5 615108; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Vascular Malformations_Germline v0.31 NRAS Bryony Thompson Classified gene: NRAS as Red List (low evidence)
Vascular Malformations_Germline v0.31 NRAS Bryony Thompson Added comment: Comment on list classification: Somatic activating mutations are the cause of vascular malformations, thus this gene is not suitable for a germline testing panel.
Vascular Malformations_Germline v0.31 NRAS Bryony Thompson Gene: nras has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.30 NRAS Bryony Thompson Tag somatic tag was added to gene: NRAS.
Vascular Malformations_Germline v0.30 NRAS Bryony Thompson gene: NRAS was added
gene: NRAS was added to Inherited Vascular Malformations. Sources: Expert list
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
Review for gene: NRAS was set to GREEN
Added comment: Somatic activating mutations in this gene cause vascular malformations. Germline variants cause the RASopathy, Noonan syndrome.
Sources: Expert list
Vascular Malformations_Germline v0.29 MTOR Bryony Thompson Classified gene: MTOR as Red List (low evidence)
Vascular Malformations_Germline v0.29 MTOR Bryony Thompson Added comment: 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.
Vascular Malformations_Germline v0.29 MTOR Bryony Thompson Gene: mtor has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.28 MTOR Bryony Thompson Added comment: Comment on mode of pathogenicity: Gain-of-function is the mechanism of disease
Vascular Malformations_Germline v0.28 MTOR Bryony Thompson Mode of pathogenicity for gene: MTOR was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Vascular Malformations_Germline v0.27 MTOR Bryony Thompson gene: MTOR was added
gene: MTOR was added to Inherited Vascular Malformations. Sources: Expert list
somatic tags were added to gene: MTOR.
Mode of inheritance for gene: MTOR was set to Other
Publications for gene: MTOR were set to 28892148; 29174369
Phenotypes for gene: MTOR were set to Smith-Kingsmore syndrome 616638; Focal cortical dysplasia, type II, somatic 607341
Review for gene: MTOR was set to AMBER
Added comment: Haemangiomas are not a prominent feature of Smith-Kingsmore syndrome, which is caused by germline variants in MTOR (PMID: 28892148). A somatic MTOR (p.F1888L) variant was detected in a subject with macrodactyly and bilateral venous malformation of the lower extremities (PMID: 29174369). mTOR inhibitors are important in the management of vascular anomalies. It appears activating mutations in genes in the mTOR pathway are causative of vascular malformations rather than activating mutations in MTOR itself.
Sources: Expert list
Vascular Malformations_Germline v0.26 MAP3K3 Bryony Thompson Classified gene: MAP3K3 as Red List (low evidence)
Vascular Malformations_Germline v0.26 MAP3K3 Bryony Thompson Added comment: Comment on list classification: Somatic mutations are the cause of vascular malformations, thus this gene is not appropriate for a germline testing panel.
Vascular Malformations_Germline v0.26 MAP3K3 Bryony Thompson Gene: map3k3 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.25 MAP3K3 Bryony Thompson gene: MAP3K3 was added
gene: MAP3K3 was added to Inherited Vascular Malformations. Sources: Expert list
somatic tags were added to gene: MAP3K3.
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
Review for gene: MAP3K3 was set to GREEN
Added comment: Somatic variants have been identified in 6 (out of 10) verrucous venous malformation specimens (and not in the germline). The authors suggest that the somatic mutations have a neomorphic or hypermorphic function.
Sources: Expert list
Vascular Malformations_Germline v0.24 MAP2K1 Bryony Thompson Classified gene: MAP2K1 as Red List (low evidence)
Vascular Malformations_Germline v0.24 MAP2K1 Bryony Thompson Added comment: Comment on list classification: Somatic activating mutations are the cause of vascular malformations, thus it is not appropriate to include this gene on a germline testing panel.
Vascular Malformations_Germline v0.24 MAP2K1 Bryony Thompson Gene: map2k1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.23 MAP2K1 Bryony Thompson gene: MAP2K1 was added
gene: MAP2K1 was added to Inherited Vascular Malformations. Sources: Expert list
somatic tags were added to gene: MAP2K1.
Mode of inheritance for gene: MAP2K1 was set to Other
Publications for gene: MAP2K1 were set to 31486960; 29461977; 28190454
Phenotypes for gene: MAP2K1 were set to Intramuscular fast-flow vascular anomaly; Arteriovenous malformation
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
Review for gene: MAP2K1 was set to GREEN
Added comment: Somatic activating mutations in this gene cause sporadic vascular malformations.
Sources: Expert list
Vascular Malformations_Germline v0.22 KRAS Bryony Thompson Classified gene: KRAS as Red List (low evidence)
Vascular Malformations_Germline v0.22 KRAS Bryony Thompson Added comment: 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.
Vascular Malformations_Germline v0.22 KRAS Bryony Thompson Gene: kras has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.21 KRAS Bryony Thompson gene: KRAS was added
gene: KRAS was added to Inherited Vascular Malformations. Sources: Expert list
somatic tags were added to gene: KRAS.
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
Review for gene: KRAS was set to GREEN
Added comment: Somatic activating mutations in this gene cause sporadic vascular malformations, particularly CNS AVMs. Germline mutations cause RASopathies.
Sources: Expert list
Vascular Malformations_Germline v0.20 KDR Bryony Thompson Classified gene: KDR as Amber List (moderate evidence)
Vascular Malformations_Germline v0.20 KDR Bryony Thompson Added comment: Comment on list classification: There is currently insufficient reports in patients to determine if this gene causes an inherited vascular malformation (haemangioma).
Vascular Malformations_Germline v0.20 KDR Bryony Thompson Gene: kdr has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.19 KDR Bryony Thompson Tag somatic tag was added to gene: KDR.
Vascular Malformations_Germline v0.19 KDR Bryony Thompson gene: KDR was added
gene: KDR was added to Inherited Vascular Malformations. Sources: Expert list
Mode of inheritance for gene: KDR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KDR were set to 30475086; 7596435; 24704994; 18931684
Phenotypes for gene: KDR were set to {Hemangioma, capillary infantile, susceptibility to} 602089; Hemangioma, capillary infantile, somatic 602089; Cystic hygroma
Review for gene: KDR was set to AMBER
Added comment: The variant identified in PMID: 18931684 (Cys482Arg) in the germline of two unrelated hemangioma cases is too common in gnomAD to be associated with rare dominant disease, but may be a susceptibility loci. Another germline missense variant has been identified in a case of cystic hygroma (PMID: 30475086). Flk1-/- (Kdr-/-) mice are embryonic lethal and demonstrate an early defect in the development of hematopoietic and endothelial cells. Organized blood vessels could not be observed.
Sources: Expert list
Vascular Malformations_Germline v0.18 HRAS Bryony Thompson Classified gene: HRAS as Red List (low evidence)
Vascular Malformations_Germline v0.18 HRAS Bryony Thompson Added comment: Comment on list classification: Somatic activating mutations cause vascular malformations, which is not really appropriate for a germline testing panel
Vascular Malformations_Germline v0.18 HRAS Bryony Thompson Gene: hras has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.17 HRAS Bryony Thompson gene: HRAS was added
gene: HRAS was added to Inherited Vascular Malformations. Sources: Expert list
somatic tags were added to gene: HRAS.
Mode of inheritance for gene: HRAS was set to Other
Publications for gene: HRAS were set to 31637524; 31160609; 30208313
Phenotypes for gene: HRAS were set to Extracranial arteriovenous malformations; Vascular malformation/overgrowth syndromes
Mode of pathogenicity for gene: HRAS was set to Other
Review for gene: HRAS was set to GREEN
Added comment: Somatic activating mutations in this gene cause vascular malformations. Germline variants cause the RASopathy, Costello syndrome.
Sources: Expert list
Vascular Malformations_Germline v0.16 Bryony Thompson Panel name changed from Vascular Malformations_RMH to Inherited Vascular Malformations
Panel types changed to Royal Melbourne Hospital
Vascular Malformations_Germline v0.15 GNA14 Bryony Thompson Classified gene: GNA14 as Red List (low evidence)
Vascular Malformations_Germline v0.15 GNA14 Bryony Thompson Added comment: 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.
Vascular Malformations_Germline v0.15 GNA14 Bryony Thompson Gene: gna14 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.14 GNA14 Bryony Thompson gene: GNA14 was added
gene: GNA14 was added to Vascular Malformations_RMH. Sources: Expert list
somatic tags were added to gene: GNA14.
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; Anastomosing hemangioma; vascular tumours
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
Review for gene: GNA14 was set to GREEN
Added comment: Somatic activating mutations cause sporadic and congenital vascular tumours.
Sources: Expert list
Vascular Malformations_Germline v0.13 CDKN1C Bryony Thompson gene: CDKN1C was added
gene: CDKN1C was added to Vascular Malformations_RMH. Sources: Expert list
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome 130650; IMAGE syndrome 614732
Review for gene: CDKN1C was set to RED
Added comment: It's not clearly reported that vascular malformations are a prominent feature of either of the conditions associated with this gene.
Sources: Expert list
Vascular Malformations_Germline v0.12 BRAF Bryony Thompson Classified gene: BRAF as Red List (low evidence)
Vascular Malformations_Germline v0.12 BRAF Bryony Thompson Gene: braf has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.11 GNA11 Bryony Thompson Classified gene: GNA11 as Red List (low evidence)
Vascular Malformations_Germline v0.11 GNA11 Bryony Thompson Gene: gna11 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.10 GNAQ Bryony Thompson Classified gene: GNAQ as Red List (low evidence)
Vascular Malformations_Germline v0.10 GNAQ Bryony Thompson Gene: gnaq has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.9 AKT1 Bryony Thompson Classified gene: AKT1 as Red List (low evidence)
Vascular Malformations_Germline v0.9 AKT1 Bryony Thompson Gene: akt1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.8 BRAF Bryony Thompson Classified gene: BRAF as Amber List (moderate evidence)
Vascular Malformations_Germline v0.8 BRAF Bryony Thompson Added comment: Comment on list classification: Somatic activating mutations only are associated with vascular malformations. Not really suitable for a germline testing panel.
Vascular Malformations_Germline v0.8 BRAF Bryony Thompson Gene: braf has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.7 BRAF Bryony Thompson gene: BRAF was added
gene: BRAF was added to Vascular Malformations_RMH. Sources: Expert list
somatic tags were added to gene: BRAF.
Mode of inheritance for gene: BRAF was set to Other
Publications for gene: BRAF were set to 29316280; 29461977; 30544177
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
Review for gene: BRAF was set to GREEN
Added comment: Somatic activating mutations in BRAF cause sporadic vascular malformations and have recently been identified in CNS arteriovenous malformations.
Sources: Expert list
Vascular Malformations_Germline v0.6 AKT1 Bryony Thompson Deleted their comment
Vascular Malformations_Germline v0.6 AKT1 Bryony Thompson Tag somatic tag was added to gene: AKT1.
Vascular Malformations_Germline v0.6 GNA11 Bryony Thompson Tag somatic tag was added to gene: GNA11.
Vascular Malformations_Germline v0.6 GNAQ Bryony Thompson Classified gene: GNAQ as Amber List (moderate evidence)
Vascular Malformations_Germline v0.6 GNAQ Bryony Thompson Added comment: Comment on list classification: Somatic mutation only causes vascular malformations. Not really suitable for a germline testing panel.
Vascular Malformations_Germline v0.6 GNAQ Bryony Thompson Gene: gnaq has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.5 GNAQ Bryony Thompson gene: GNAQ was added
gene: GNAQ was added to Vascular Malformations_RMH. Sources: Expert list
somatic tags were added to gene: GNAQ.
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
Review for gene: GNAQ was set to GREEN
Added comment: The somatic activating mutation Arg183Gln cause conditions with vascular malformations.
Sources: Expert list
Vascular Malformations_Germline v0.4 AKT1 Bryony Thompson Classified gene: AKT1 as Amber List (moderate evidence)
Vascular Malformations_Germline v0.4 AKT1 Bryony Thompson Added comment: 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.
Vascular Malformations_Germline v0.4 AKT1 Bryony Thompson Gene: akt1 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.3 GNA11 Bryony Thompson Classified gene: GNA11 as Amber List (moderate evidence)
Vascular Malformations_Germline v0.3 GNA11 Bryony Thompson Added comment: Comment on list classification: Probably not suitable for a germline testing panel
Vascular Malformations_Germline v0.3 GNA11 Bryony Thompson Gene: gna11 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.2 GNA11 Bryony Thompson reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30920161, 30677207; Phenotypes: Phacomatosis pigmentovascularis, somatic; Mode of inheritance: Other
Vascular Malformations_Germline v0.2 AKT1 Bryony Thompson Classified gene: AKT1 as Green List (high evidence)
Vascular Malformations_Germline v0.2 AKT1 Bryony Thompson Added comment: Comment on list classification: This gene is green for somatic variants.
Vascular Malformations_Germline v0.2 AKT1 Bryony Thompson Gene: akt1 has been classified as Green List (High Evidence).
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
Vascular Malformations_Germline v0.0 TEK Bryony Thompson gene: TEK was added
gene: TEK was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TEK were set to Venous malformations, multiple cutaneous and mucosal 600195
Vascular Malformations_Germline v0.0 TBX4 Bryony Thompson gene: TBX4 was added
gene: TBX4 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TBX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX4 were set to SPS; Heritable pulmonary arterial hypertension; Small patella syndrome; Ischiocoxopodopatellar syndrome, 147891; IPAH; Pulmonary arterial hypertension; Idiopathic pulmonary arterial hypertension; HPAH
Vascular Malformations_Germline v0.0 STAMBP Bryony Thompson gene: STAMBP was added
gene: STAMBP was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAMBP were set to Microcephaly-capillary malformation syndrome
Vascular Malformations_Germline v0.0 SOX18 Bryony Thompson gene: SOX18 was added
gene: SOX18 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome, 607823; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 137940
Vascular Malformations_Germline v0.0 SOX17 Bryony Thompson gene: SOX17 was added
gene: SOX17 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SOX17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX17 were set to Heritable pulmonary arterial hypertension; HPAH
Vascular Malformations_Germline v0.0 SMAD9 Bryony Thompson gene: SMAD9 was added
gene: SMAD9 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SMAD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMAD9 were set to Pulmonary hypertension, primary, 2, 615342; Heritable pulmonary arterial hypertension; IPAH; Pulmonary arterial hypertension; Idiopathic pulmonary arterial hypertension; HPAH
Vascular Malformations_Germline v0.0 SMAD4 Bryony Thompson gene: SMAD4 was added
gene: SMAD4 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
Vascular Malformations_Germline v0.0 RASA1 Bryony Thompson gene: RASA1 was added
gene: RASA1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation 608354
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
Vascular Malformations_Germline v0.0 PIK3CA Bryony Thompson gene: PIK3CA was added
gene: PIK3CA was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PIK3CA was set to
Phenotypes for gene: PIK3CA were set to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Vascular Malformations_Germline v0.0 PIEZO1 Bryony Thompson gene: PIEZO1 was added
gene: PIEZO1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PIEZO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIEZO1 were set to Lymphedema, hereditary, III
Vascular Malformations_Germline v0.0 PDCD10 Bryony Thompson gene: PDCD10 was added
gene: PDCD10 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PDCD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PDCD10 were set to Cerebral cavernous malformations 3
Vascular Malformations_Germline v0.0 KRIT1 Bryony Thompson gene: KRIT1 was added
gene: KRIT1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRIT1 were set to Cerebral cavernous malformations-1 116860; Cavernous malformations of CNS and retina 116860; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860
Vascular Malformations_Germline v0.0 KIF11 Bryony Thompson gene: KIF11 was added
gene: KIF11 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KIF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIF11 were set to Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Vascular Malformations_Germline v0.0 KCNK3 Bryony Thompson gene: KCNK3 was added
gene: KCNK3 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNK3 were set to Heritable pulmonary arterial hypertension; IPAH; Pulmonary arterial hypertension; Pulmonary hypertension, primary, 4, 615344; Idiopathic pulmonary arterial hypertension; HPAH
Vascular Malformations_Germline v0.0 GNA11 Bryony Thompson gene: GNA11 was added
gene: GNA11 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GNA11 was set to
Publications for gene: GNA11 were set to 30677207
Phenotypes for gene: GNA11 were set to Somatic hemangioma
Vascular Malformations_Germline v0.0 GLMN Bryony Thompson gene: GLMN was added
gene: GLMN was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GLMN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLMN were set to Glomuvenous malformations
Vascular Malformations_Germline v0.0 GJC2 Bryony Thompson gene: GJC2 was added
gene: GJC2 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GJC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GJC2 were set to Lymphatic malformation 3
Vascular Malformations_Germline v0.0 GDF2 Bryony Thompson gene: GDF2 was added
gene: GDF2 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GDF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GDF2 were set to Telangiectasia, hereditary hemorrhagic, type 5 615506
Vascular Malformations_Germline v0.0 GATA2 Bryony Thompson gene: GATA2 was added
gene: GATA2 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GATA2 were set to Lymphedema, primary, with myelodysplasia
Vascular Malformations_Germline v0.0 FOXC2 Bryony Thompson gene: FOXC2 was added
gene: FOXC2 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXC2 were set to Lymphedema-distichiasis syndrome
Vascular Malformations_Germline v0.0 FLT4 Bryony Thompson gene: FLT4 was added
gene: FLT4 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FLT4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FLT4 were set to Lymphedema, hereditary I (Milory disease)
Vascular Malformations_Germline v0.0 FAT4 Bryony Thompson gene: FAT4 was added
gene: FAT4 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAT4 were set to Hennekam lymphangiectasia-lymphedema syndrome 2
Vascular Malformations_Germline v0.0 EPHB4 Bryony Thompson gene: EPHB4 was added
gene: EPHB4 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation 2, MIM#618196
Vascular Malformations_Germline v0.0 ENG Bryony Thompson gene: ENG was added
gene: ENG was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ENG were set to Epistaxis (HP:0000421); Spinal arteriovenous malformation (HP:0002390); Tongue telangiectasia (HP:0000227); Telangiectasia, hereditary hemorrhagic, type 1, 187300; Cerebral arteriovenous malformation (HP:0002408); Palate telangiectasia (HP:0002707); Hepatic arteriovenous malformation (HP:0006574; Lip telangiectasia (HP:0000214); Arteriovenous malformation (HP:0100026); Nasal mucosa telangiectasia (HP:0000434); Pulmonary arteriovenous malformation (HP:0006548); ); Finger pad telangiectasia (pulp not nail side); Gastrointestinal telangiectasia (HP:0002604)
Vascular Malformations_Germline v0.0 ELMO2 Bryony Thompson gene: ELMO2 was added
gene: ELMO2 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ELMO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELMO2 were set to Vascular malformation, primary intraosseous, MIM#606893
Vascular Malformations_Germline v0.0 EIF2AK4 Bryony Thompson gene: EIF2AK4 was added
gene: EIF2AK4 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EIF2AK4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK4 were set to Pulmonary venoocclusive disease 2, 234810; pulmonary capillary hemangiomatosis; Heritable pulmonary arterial hypertension; PVOD; IPAH; Pulmonary arterial hypertension; Idiopathic pulmonary arterial hypertension; PCH; HPAH
Vascular Malformations_Germline v0.0 CCM2 Bryony Thompson gene: CCM2 was added
gene: CCM2 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CCM2 were set to Cerebral cavernous malformations
Vascular Malformations_Germline v0.0 CCBE1 Bryony Thompson gene: CCBE1 was added
gene: CCBE1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCBE1 were set to Hennekam lymphangiectasia-lymphedema syndrome 1, MIM#235510
Vascular Malformations_Germline v0.0 CAV1 Bryony Thompson gene: CAV1 was added
gene: CAV1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CAV1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CAV1 were set to Pulmonary hypertension, primary, 3, 615343; Heritable pulmonary arterial hypertension; HPAH; Pulmonary arterial hypertension
Vascular Malformations_Germline v0.0 BMPR2 Bryony Thompson gene: BMPR2 was added
gene: BMPR2 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BMPR2 were set to Pulmonary hypertension, familial primary, 1, with or without HHT, 178600
Vascular Malformations_Germline v0.0 BMPR1B Bryony Thompson gene: BMPR1B was added
gene: BMPR1B was added to Vascular Malformations_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: BMPR1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BMPR1B were set to 22374147
Phenotypes for gene: BMPR1B were set to Idiopathic pulmonary arterial hypertension; IPAH
Vascular Malformations_Germline v0.0 ATP13A3 Bryony Thompson gene: ATP13A3 was added
gene: ATP13A3 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATP13A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP13A3 were set to Heritable pulmonary arterial hypertension; HPAH
Vascular Malformations_Germline v0.0 AQP1 Bryony Thompson gene: AQP1 was added
gene: AQP1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AQP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AQP1 were set to Heritable pulmonary arterial hypertension; HPAH
Vascular Malformations_Germline v0.0 ACVRL1 Bryony Thompson gene: ACVRL1 was added
gene: ACVRL1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACVRL1 were set to cerebral pulmonary arteriovenous malformation; pulmonary arteriovenous malformation; hepatic arteriovenous malformation; epistaxis; pulmonary arterial hypertension; Telangiectasia, hereditary hemorrhagic, type 2 600376; telangiectasia
Vascular Malformations_Germline v0.0 Bryony Thompson Added panel Vascular Malformations_RMH