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Vascular skin disorders v1.4 Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Panel version has been signed off
Vascular skin disorders v1.3 STAMBP Zornitza Stark gene: STAMBP was added
gene: STAMBP was added to Vascular skin disorders. Sources: Expert list
Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAMBP were set to 23542699
Phenotypes for gene: STAMBP were set to Microcephaly-capillary malformation syndrome, MIM# 614261
Review for gene: STAMBP was set to GREEN
Added comment: Nine families reported in the original publication.
Sources: Expert list
Vascular skin disorders v1.3 PIK3R2 Zornitza Stark reviewed gene: PIK3R2: Rating: RED; Mode of pathogenicity: None; Publications: 22729224, 28502725; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular skin disorders v1.3 FOXC2 Zornitza Stark reviewed gene: FOXC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphedema-distichiasis syndrome, MIM# 153400; Mode of inheritance: None
Vascular skin disorders v1.3 FLT4 Zornitza Stark reviewed gene: FLT4: Rating: RED; Mode of pathogenicity: None; Publications: 11807987; Phenotypes: Hemangioma, capillary infantile, somatic, MIM# 602089; Mode of inheritance: None
Vascular skin disorders v1.3 F12 Zornitza Stark reviewed gene: F12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Vascular skin disorders v1.3 CCBE1 Zornitza Stark reviewed gene: CCBE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hennekam lymphangiectasia-lymphedema syndrome 1 235510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vascular skin disorders v1.3 ALAS2 Zornitza Stark reviewed gene: ALAS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Vascular skin disorders v1.3 AKT3 Zornitza Stark gene: AKT3 was added
gene: AKT3 was added to Vascular skin disorders. Sources: Expert list
Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AKT3 were set to 23745724; 22729224
Phenotypes for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (615937)
Mode of pathogenicity for gene: AKT3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: AKT3 was set to GREEN
gene: AKT3 was marked as current diagnostic
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 list
Vascular skin disorders v1.3 ADAMTS13 Zornitza Stark reviewed gene: ADAMTS13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombotic thrombocytopenic purpura, hereditary 274150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vascular skin disorders v1.3 Sarah Leigh Panel version has been signed off
Vascular skin disorders v1.0 Louise Daugherty promoted panel to version 1.0
Vascular skin disorders v0.39 Louise Daugherty List of related panels changed from to R326
Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Vascular skin disorders v0.38 GNAQ Catherine Snow Classified gene: GNAQ as No list
Vascular skin disorders v0.38 GNAQ Catherine Snow Added comment: Comment on list classification: Following advice from Tom Cullup of GOSH "test on this not fit for purpose as only v.low level mosaicism. To be fulfilled by mosaic panel."
Vascular skin disorders v0.38 GNAQ Catherine Snow Gene: gnaq has been removed from the panel.
Vascular skin disorders v0.37 GNA11 Catherine Snow Classified gene: GNA11 as No list
Vascular skin disorders v0.37 GNA11 Catherine Snow Added comment: Comment on list classification: Following advice from Tom Cullup of GOSH "test on this not fit for purpose as only v.low level mosaicism. To be fulfilled by mosaic panel."
Vascular skin disorders v0.37 GNA11 Catherine Snow Gene: gna11 has been removed from the panel.
Vascular skin disorders v0.36 PPOX Catherine Snow Classified gene: PPOX as Red List (low evidence)
Vascular skin disorders v0.36 PPOX Catherine Snow Added comment: Comment on list classification: Rating as Red as advised by Tom Cullup as "porphyria testing covered elsewhere in test directory."
Vascular skin disorders v0.36 PPOX Catherine Snow Gene: ppox has been classified as Red List (Low Evidence).
Vascular skin disorders v0.36 PPOX Catherine Snow Classified gene: PPOX as Red List (low evidence)
Vascular skin disorders v0.36 PPOX Catherine Snow Added comment: Comment on list classification: Rating as Red as advised by Tom Cullup as "porphyria testing covered elsewhere in test directory."
Vascular skin disorders v0.36 PPOX Catherine Snow Gene: ppox has been classified as Red List (Low Evidence).
Vascular skin disorders v0.35 CPOX Catherine Snow Classified gene: CPOX as Red List (low evidence)
Vascular skin disorders v0.35 CPOX Catherine Snow Added comment: Comment on list classification: Rating as Red as advised by Tom Cullup as "porphyria testing covered elsewhere in test directory."
Vascular skin disorders v0.35 CPOX Catherine Snow Gene: cpox has been classified as Red List (Low Evidence).
Vascular skin disorders v0.34 CPO Catherine Snow Classified gene: CPO as Red List (low evidence)
Vascular skin disorders v0.34 CPO Catherine Snow Added comment: Comment on list classification: Rating as Red as advised by Tom Cullup as "porphyria testing covered elsewhere in test directory."
Vascular skin disorders v0.34 CPO Catherine Snow Gene: cpo has been classified as Red List (Low Evidence).
Vascular skin disorders v0.33 AP3B1 Catherine Snow Classified gene: AP3B1 as Red List (low evidence)
Vascular skin disorders v0.33 AP3B1 Catherine Snow Added comment: Comment on list classification: Rating as Red as advised by Tom Cullup @ GOSH as "Hermansky-Pudlak syndrome is covered elsewhere in test directory".
Vascular skin disorders v0.33 AP3B1 Catherine Snow Gene: ap3b1 has been classified as Red List (Low Evidence).
Vascular skin disorders v0.32 AP3B1 Catherine Snow Phenotypes for gene: AP3B1 were changed from to Hermansky-Pudlak syndrome 2
Vascular skin disorders v0.31 FECH Catherine Snow Publications for gene: FECH were set to
Vascular skin disorders v0.30 FECH Catherine Snow Phenotypes for gene: FECH were changed from to Protoporphyria, erythropoietic, 1
Vascular skin disorders v0.29 ATR Catherine Snow Publications for gene: ATR were set to
Vascular skin disorders v0.28 KDR Catherine Snow Publications for gene: KDR were set to
Vascular skin disorders v0.27 KDR Catherine Snow Classified gene: KDR as Red List (low evidence)
Vascular skin disorders v0.27 KDR Catherine Snow Gene: kdr has been classified as Red List (Low Evidence).
Vascular skin disorders v0.26 KDR Catherine Snow changed review comment from: Comment on list classification: KDR rated as Amber by Tom Cullup as variants only reported in two individuals, one germline one somatic.; to: Comment on list classification: KDR subsequentaly rated as Red by Tom Cullup as "Susceptibility, rather than diagnostically causative." OMIM entry has variants only reported in two individuals, one germline one somatic.
Vascular skin disorders v0.26 KDR Catherine Snow Classified gene: KDR as Amber List (moderate evidence)
Vascular skin disorders v0.26 KDR Catherine Snow Added comment: Comment on list classification: KDR rated as Amber by Tom Cullup as variants only reported in two individuals, one germline one somatic.
Vascular skin disorders v0.26 KDR Catherine Snow Gene: kdr has been classified as Amber List (Moderate Evidence).
Vascular skin disorders v0.25 ATR Catherine Snow Classified gene: ATR as Amber List (moderate evidence)
Vascular skin disorders v0.25 ATR Catherine Snow Added comment: Comment on list classification: ATR classified as Amber, associated publication is based on just one family, no further reports of gene disease relationship at this time.
Vascular skin disorders v0.25 ATR Catherine Snow Gene: atr has been classified as Amber List (Moderate Evidence).
Vascular skin disorders v0.24 TMEM173 Tom Cullup reviewed gene: TMEM173: Rating: GREEN; Mode of pathogenicity: ; Publications: 25029335; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 TEK Tom Cullup reviewed gene: TEK: Rating: GREEN; Mode of pathogenicity: ; Publications: 19888299; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 SOX18 Tom Cullup reviewed gene: SOX18: Rating: GREEN; Mode of pathogenicity: ; Publications: 12740761; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 SMAD4 Tom Cullup reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 15031030; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 SCN9A Tom Cullup reviewed gene: SCN9A: Rating: GREEN; Mode of pathogenicity: ; Publications: 14985375; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 RASA1 Tom Cullup reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14639529; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 PIK3R2 Tom Cullup reviewed gene: PIK3R2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22729224, 23745720; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 PIK3CA Tom Cullup reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: ; Publications: 22658544, 22729223, 22729222, 23246288, 22729224; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 KRIT1 Tom Cullup reviewed gene: KRIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10508515; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 KDR Tom Cullup reviewed gene: KDR: Rating: AMBER; Mode of pathogenicity: ; Publications: 18931684, 11807987; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 GNAQ Tom Cullup reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: ; Publications: 26778290; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 GNA11 Tom Cullup reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: ; Publications: 26778290; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 GLMN Tom Cullup reviewed gene: GLMN: Rating: GREEN; Mode of pathogenicity: ; Publications: 11845407; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 FOXC2 Tom Cullup reviewed gene: FOXC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11078474; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 FLT4 Tom Cullup reviewed gene: FLT4: Rating: GREEN; Mode of pathogenicity: ; Publications: 10835628, 11807987; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 FECH Tom Cullup reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: ; Publications: 9649563; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 F12 Tom Cullup reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: ; Publications: 16638441; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 EPHB4 Tom Cullup reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: ; Publications: 28687708; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 ENG Tom Cullup reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: ; Publications: 7894484; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 CCBE1 Tom Cullup reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19935664; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 ATR Tom Cullup reviewed gene: ATR: Rating: AMBER; Mode of pathogenicity: ; Publications: 22341969; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 ATM Tom Cullup reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: 7792600; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 ALAS2 Tom Cullup reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18760763; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 ADAMTS13 Tom Cullup reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: ; Publications: 11586351; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 ACVRL1 Tom Cullup reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8640225; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.23 SCN9A Catherine Snow Added comment: Comment on mode of inheritance: Following advice from Tom Cullup (GOSH) ATR MOI was changed to Monoallelic
Vascular skin disorders v0.23 SCN9A Catherine Snow Mode of inheritance for gene: SCN9A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular skin disorders v0.22 ATR Catherine Snow Added comment: Comment on mode of inheritance: Following advice from Tom Cullup (GOSH) ATR MOI was changed to Monoallelic
Vascular skin disorders v0.22 ATR Catherine Snow Mode of inheritance for gene: ATR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular skin disorders v0.21 ALAS2 Catherine Snow Source Expert Review Green was added to ALAS2.
Added phenotypes Protoporphyria, erythropoietic, X-linked, 300752 for gene: ALAS2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Vascular skin disorders v0.20 ALAS2 Catherine Snow reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.19 ALAS2 Catherine Snow gene: ALAS2 was added
gene: ALAS2 was added to Vascular skin disorders. Sources: Expert Review
Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ALAS2 were set to Protoporphyria, erythropoietic, X-linked, 300752
Vascular skin disorders v0.18 ADAMTS13 Catherine Snow Classified gene: ADAMTS13 as Green List (high evidence)
Vascular skin disorders v0.18 ADAMTS13 Catherine Snow Added comment: Comment on list classification: Comment on list classification: Discussion with clinical team phenotype relevant for this panel, ADAMTS13 can be classified as Green.
Vascular skin disorders v0.18 ADAMTS13 Catherine Snow Gene: adamts13 has been classified as Green List (High Evidence).
Vascular skin disorders v0.17 FECH Catherine Snow Classified gene: FECH as Green List (high evidence)
Vascular skin disorders v0.17 FECH Catherine Snow Added comment: Comment on list classification: Comment on list classification: Discussion with clinical team phenotype relevant for this panel, FECH can be classified as Green.
Vascular skin disorders v0.17 FECH Catherine Snow Gene: fech has been classified as Green List (High Evidence).
Vascular skin disorders v0.16 CPOX Catherine Snow Classified gene: CPOX as Red List (low evidence)
Vascular skin disorders v0.16 CPOX Catherine Snow Added comment: Comment on list classification: Comment on list classification: Discussion with clinical team as no evidence for gene disease relationship, CPOX should be classified as Red.
Vascular skin disorders v0.16 CPOX Catherine Snow Gene: cpox has been classified as Red List (Low Evidence).
Vascular skin disorders v0.15 PPOX Catherine Snow Classified gene: PPOX as Red List (low evidence)
Vascular skin disorders v0.15 PPOX Catherine Snow Added comment: Comment on list classification: Discussion with clinical team as no evidence for gene disease relationship, PPOX should be classified as Red.
Vascular skin disorders v0.15 PPOX Catherine Snow Gene: ppox has been classified as Red List (Low Evidence).
Vascular skin disorders v0.14 CPO Catherine Snow Classified gene: CPO as Red List (low evidence)
Vascular skin disorders v0.14 CPO Catherine Snow Added comment: Comment on list classification: Discussion with clinical team as no evidence for gene disease relationship, CPO should be classified as Red.
Vascular skin disorders v0.14 CPO Catherine Snow Gene: cpo has been classified as Red List (Low Evidence).
Vascular skin disorders v0.13 PPOX Catherine Snow reviewed gene: PPOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.13 FECH Catherine Snow reviewed gene: FECH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.13 CPOX Catherine Snow reviewed gene: CPOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.13 CPO Catherine Snow reviewed gene: CPO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.13 AP3B1 Catherine Snow reviewed gene: AP3B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.13 ADAMTS13 Catherine Snow reviewed gene: ADAMTS13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.12 TMEM173 Louise Daugherty Tag new-gene-name tag was added to gene: TMEM173.
Vascular skin disorders v0.12 TMEM173 Louise Daugherty commented on gene: TMEM173
Vascular skin disorders v0.12 PPOX Catherine Snow gene: PPOX was added
gene: PPOX was added to Vascular skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Vascular skin disorders v0.12 FECH Catherine Snow gene: FECH was added
gene: FECH was added to Vascular skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal
Vascular skin disorders v0.12 CPOX Catherine Snow gene: CPOX was added
gene: CPOX was added to Vascular skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: CPOX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Vascular skin disorders v0.12 CPO Catherine Snow gene: CPO was added
gene: CPO was added to Vascular skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: CPO was set to
Vascular skin disorders v0.12 AP3B1 Catherine Snow gene: AP3B1 was added
gene: AP3B1 was added to Vascular skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal
Vascular skin disorders v0.12 ADAMTS13 Catherine Snow gene: ADAMTS13 was added
gene: ADAMTS13 was added to Vascular skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal
Vascular skin disorders v0.9 PTEN Rebecca Foulger Phenotypes for gene: PTEN were changed from Cowden syndrome 1, 158350 to Cowden syndrome 1, 158350; capillary venous malformations
Vascular skin disorders v0.8 PTEN Rebecca Foulger Classified gene: PTEN as Amber List (moderate evidence)
Vascular skin disorders v0.8 PTEN Rebecca Foulger Gene: pten has been classified as Amber List (Moderate Evidence).
Vascular skin disorders v0.7 PTEN Rebecca Foulger gene: PTEN was added
gene: PTEN was added to Vascular skin disorders. Sources: Other
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 1, 158350
Added comment: Added PTEN to the 'Vascular skin disorders' panel as suggested by Anna de Burca and Ellen Thomas, based on capillary malformations associated with (at least) Cowden syndrome. Rated PTEN as Amber awaiting clinical feedback from skin Webex call.
Sources: Other
Vascular skin disorders v0.6 ATM Rebecca Foulger Added comment: Comment on mode of inheritance: On advice from Anna de Burca and Ellen Thomas, changed MOI from 'both monoallelic and biallelic' to 'biallelic' only to match OMIM, which lists AR inheritance for 'Ataxia-telangiectasia, 208900'.
Vascular skin disorders v0.6 ATM Rebecca Foulger Mode of inheritance for gene: ATM was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Vascular skin disorders v0.5 VEGFA Rebecca Foulger Source London North GLH was added to VEGFA.
Vascular skin disorders v0.5 IDH2 Rebecca Foulger Source London North GLH was added to IDH2.
Vascular skin disorders v0.5 IDH1 Rebecca Foulger Source London North GLH was added to IDH1.
Vascular skin disorders v0.5 ANTXR1 Rebecca Foulger Source London North GLH was added to ANTXR1.
Vascular skin disorders v0.5 AGGF1 Rebecca Foulger Source London North GLH was added to AGGF1.
Vascular skin disorders v0.5 TMEM173 Rebecca Foulger Source London North GLH was added to TMEM173.
Vascular skin disorders v0.5 TEK Rebecca Foulger Source London North GLH was added to TEK.
Vascular skin disorders v0.5 SOX18 Rebecca Foulger Source London North GLH was added to SOX18.
Vascular skin disorders v0.5 SMAD4 Rebecca Foulger Source London North GLH was added to SMAD4.
Vascular skin disorders v0.5 SCN9A Rebecca Foulger Source London North GLH was added to SCN9A.
Vascular skin disorders v0.5 RASA1 Rebecca Foulger Source London North GLH was added to RASA1.
Vascular skin disorders v0.5 PIK3R2 Rebecca Foulger Source London North GLH was added to PIK3R2.
Vascular skin disorders v0.5 PIK3CA Rebecca Foulger Source London North GLH was added to PIK3CA.
Vascular skin disorders v0.5 KRIT1 Rebecca Foulger Source London North GLH was added to KRIT1.
Vascular skin disorders v0.5 KDR Rebecca Foulger Source London North GLH was added to KDR.
Vascular skin disorders v0.5 GNAQ Rebecca Foulger Source London North GLH was added to GNAQ.
Vascular skin disorders v0.5 GNA11 Rebecca Foulger Source London North GLH was added to GNA11.
Vascular skin disorders v0.5 GLMN Rebecca Foulger Source London North GLH was added to GLMN.
Vascular skin disorders v0.5 FOXC2 Rebecca Foulger Source London North GLH was added to FOXC2.
Vascular skin disorders v0.5 FLT4 Rebecca Foulger Source London North GLH was added to FLT4.
Vascular skin disorders v0.5 F12 Rebecca Foulger Source London North GLH was added to F12.
Vascular skin disorders v0.5 EPHB4 Rebecca Foulger Source London North GLH was added to EPHB4.
Vascular skin disorders v0.5 ENG Rebecca Foulger Source London North GLH was added to ENG.
Vascular skin disorders v0.5 CCBE1 Rebecca Foulger Source London North GLH was added to CCBE1.
Vascular skin disorders v0.5 ATR Rebecca Foulger Source London North GLH was added to ATR.
Vascular skin disorders v0.5 ATM Rebecca Foulger Source London North GLH was added to ATM.
Vascular skin disorders v0.5 ACVRL1 Rebecca Foulger Source London North GLH was added to ACVRL1.
Vascular skin disorders v0.4 EPHB4 Rebecca Foulger reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.4 VEGFA Rebecca Foulger reviewed gene: VEGFA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.4 TMEM173 Rebecca Foulger reviewed gene: TMEM173: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 TEK Rebecca Foulger reviewed gene: TEK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 SOX18 Rebecca Foulger reviewed gene: SOX18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 SMAD4 Rebecca Foulger reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 SCN9A Rebecca Foulger reviewed gene: SCN9A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 RASA1 Rebecca Foulger reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 PIK3R2 Rebecca Foulger reviewed gene: PIK3R2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 PIK3CA Rebecca Foulger reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 KRIT1 Rebecca Foulger reviewed gene: KRIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 KDR Rebecca Foulger reviewed gene: KDR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 IDH2 Rebecca Foulger reviewed gene: IDH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.4 IDH1 Rebecca Foulger reviewed gene: IDH1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.4 GNAQ Rebecca Foulger reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 GNA11 Rebecca Foulger reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 GLMN Rebecca Foulger reviewed gene: GLMN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 FOXC2 Rebecca Foulger reviewed gene: FOXC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 FLT4 Rebecca Foulger reviewed gene: FLT4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 F12 Rebecca Foulger reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 ENG Rebecca Foulger reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 CCBE1 Rebecca Foulger reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 ATR Rebecca Foulger reviewed gene: ATR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 ATM Rebecca Foulger reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Vascular skin disorders v0.4 ANTXR1 Rebecca Foulger reviewed gene: ANTXR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.4 AGGF1 Rebecca Foulger reviewed gene: AGGF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.4 ACVRL1 Rebecca Foulger reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.3 EPHB4 Rebecca Foulger gene: EPHB4 was added
gene: EPHB4 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EPHB4 were set to CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2, 618196
Vascular skin disorders v0.3 VEGFA Rebecca Foulger gene: VEGFA was added
gene: VEGFA was added to Vascular skin disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: VEGFA was set to
Phenotypes for gene: VEGFA were set to Association with POEMS syndrome
Vascular skin disorders v0.3 TMEM173 Rebecca Foulger gene: TMEM173 was added
gene: TMEM173 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TMEM173 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TMEM173 were set to STING-associated vasculopathy
Vascular skin disorders v0.3 TEK Rebecca Foulger gene: TEK was added
gene: TEK was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TEK were set to Venous malformations
Vascular skin disorders v0.3 SOX18 Rebecca Foulger gene: SOX18 was added
gene: SOX18 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
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
Vascular skin disorders v0.3 SMAD4 Rebecca Foulger gene: SMAD4 was added
gene: SMAD4 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
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
Vascular skin disorders v0.3 SCN9A Rebecca Foulger gene: SCN9A was added
gene: SCN9A was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SCN9A were set to Erythromyalgia
Vascular skin disorders v0.3 RASA1 Rebecca Foulger gene: RASA1 was added
gene: RASA1 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
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 syndrome
Vascular skin disorders v0.3 PIK3R2 Rebecca Foulger gene: PIK3R2 was added
gene: PIK3R2 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIK3R2 were set to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, 603387
Vascular skin disorders v0.3 PIK3CA Rebecca Foulger gene: PIK3CA was added
gene: PIK3CA was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIK3CA were set to PIK3CA-related overgrowth syndromes; Vascular malformations
Vascular skin disorders v0.3 KRIT1 Rebecca Foulger gene: KRIT1 was added
gene: KRIT1 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
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, 116860
Vascular skin disorders v0.3 KDR Rebecca Foulger gene: KDR was added
gene: KDR was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KDR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KDR were set to Susceptibility to infantile haemangioma
Vascular skin disorders v0.3 IDH2 Rebecca Foulger gene: IDH2 was added
gene: IDH2 was added to Vascular skin disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IDH2 were set to Ollier disease; Maffucci syndrome
Vascular skin disorders v0.3 IDH1 Rebecca Foulger gene: IDH1 was added
gene: IDH1 was added to Vascular skin disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: IDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IDH1 were set to Ollier disease; Maffucci syndrome
Vascular skin disorders v0.3 GNAQ Rebecca Foulger gene: GNAQ was added
gene: GNAQ was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GNAQ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GNAQ were set to Phakomatosis pigmentovascularis; Extensive dermal melanocytosis; Sturge Weber syndrome
Vascular skin disorders v0.3 GNA11 Rebecca Foulger gene: GNA11 was added
gene: GNA11 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GNA11 were set to Phakomatosis pigmentovascularis; Extensive dermal melanocytosis
Vascular skin disorders v0.3 GLMN Rebecca Foulger gene: GLMN was added
gene: GLMN was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GLMN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GLMN were set to Glomulovenous malformations
Vascular skin disorders v0.3 FOXC2 Rebecca Foulger gene: FOXC2 was added
gene: FOXC2 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXC2 were set to Lymphoedema-distichiasis syndrome
Vascular skin disorders v0.3 FLT4 Rebecca Foulger gene: FLT4 was added
gene: FLT4 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FLT4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FLT4 were set to Infantile haemangioma; Milroy disease
Vascular skin disorders v0.3 F12 Rebecca Foulger gene: F12 was added
gene: F12 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: F12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: F12 were set to Hereditary angioedema
Vascular skin disorders v0.3 ENG Rebecca Foulger gene: ENG was added
gene: ENG was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ENG were set to Hereditary haemorrhagic telengiectasia
Vascular skin disorders v0.3 CCBE1 Rebecca Foulger gene: CCBE1 was added
gene: CCBE1 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCBE1 were set to Hennekam lymphangiectasia-lymphoedema syndrome
Vascular skin disorders v0.3 ATR Rebecca Foulger gene: ATR was added
gene: ATR was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ATR were set to Cutaneous telangiectasia and cancer syndrome
Vascular skin disorders v0.3 ATM Rebecca Foulger gene: ATM was added
gene: ATM was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATM was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Ataxia telengiectasia
Vascular skin disorders v0.3 ANTXR1 Rebecca Foulger gene: ANTXR1 was added
gene: ANTXR1 was added to Vascular skin disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ANTXR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANTXR1 were set to Susceptibility to infantile haemangioma
Vascular skin disorders v0.3 AGGF1 Rebecca Foulger gene: AGGF1 was added
gene: AGGF1 was added to Vascular skin disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: AGGF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AGGF1 were set to Susceptibility to Klippel-Trenaunay-Weber syndrome
Vascular skin disorders v0.3 ACVRL1 Rebecca Foulger gene: ACVRL1 was added
gene: ACVRL1 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACVRL1 were set to Hereditary haemorrhagic telengiectasia
Vascular skin disorders v0.2 Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel
Vascular skin disorders v0.0 Ellen McDonagh Added Panel Vascular skin disorders
Set panel types to: GMS Rare Disease