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Mosaic skin disorders v1.12 ACTB Zornitza Stark Phenotypes for gene: ACTB were changed from Becker's naevus to Becker nevus, somatic mosaic, MIM# 604919
Mosaic skin disorders v1.11 ACTB Zornitza Stark reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Becker nevus, somatic mosaic, MIM# 604919; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v1.10 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease; Tasmanian Clinical Genetics Service
Mosaic skin disorders v1.9 PORCN Bryony Thompson Marked gene: PORCN as ready
Mosaic skin disorders v1.9 PORCN Bryony Thompson Gene: porcn has been classified as Green List (High Evidence).
Mosaic skin disorders v1.9 PORCN Bryony Thompson Classified gene: PORCN as Green List (high evidence)
Mosaic skin disorders v1.9 PORCN Bryony Thompson Added comment: Comment on list classification: Added from PanelApp UK mosaic skin disorders panel
Mosaic skin disorders v1.9 PORCN Bryony Thompson Gene: porcn has been classified as Green List (High Evidence).
Mosaic skin disorders v1.8 BRAF Bryony Thompson Classified gene: BRAF as Green List (high evidence)
Mosaic skin disorders v1.8 BRAF Bryony Thompson Added comment: Comment on list classification: Added from PanelApp UK Mosaic skin disorders panel
Mosaic skin disorders v1.8 BRAF Bryony Thompson Gene: braf has been classified as Green List (High Evidence).
Mosaic skin disorders v1.7 BRAF Bryony Thompson Marked gene: BRAF as ready
Mosaic skin disorders v1.7 BRAF Bryony Thompson Gene: braf has been classified as Green List (High Evidence).
Mosaic skin disorders v1.7 BRAF Bryony Thompson Classified gene: BRAF as Green List (high evidence)
Mosaic skin disorders v1.7 BRAF Bryony Thompson Gene: braf has been classified as Green List (High Evidence).
Mosaic skin disorders v1.6 PORCN Sangavi Sivagnanasundram gene: PORCN was added
gene: PORCN was added to Mosaic skin disorders. Sources: NHS GMS
Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PORCN were set to 17546030; 19309688
Phenotypes for gene: PORCN were set to Focal dermal hypoplasia (MONDO:0010592; MIM#305600)
Mode of pathogenicity for gene: PORCN 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: PORCN was set to GREEN
Added comment: Well established gene associated with Focal Dermal Hypoplasia (FDH). Predominantly reported in females (male lethality).

PMID: 19309688 - 24 unrelated patients (21 female and 3 male) with focal dermal hypoplasia (FDH) were studied. A variety of variants (nonsense, splice site and missense) were identified while 3 cases with skewed X inactivation had microdeletions eliminating PORCN. The 3 male cases were shown to be a result of postzygotic mosaicism which was also identified in 2 female cases.

PMID: 17546030 - 10 of 15 confirmed with FDH were analysed and heterozygous (missense, nonsense, indels) mutations causative of FDH was identified. In 9 cases, variants weren't detected in parental samples. A mildy affected father of 1 case showed somatic mosaicism for this variant while they identified de novo mosaic mutations in 3 male FDH cases but not in their parents.
Sources: NHS GMS
Mosaic skin disorders v1.6 BRAF Sangavi Sivagnanasundram gene: BRAF was added
gene: BRAF was added to Mosaic skin disorders. Sources: NHS GMS
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRAF were set to 31111470
Phenotypes for gene: BRAF were set to Melanocytic naevus syndrome (MONDO:0044792; MIM#137550)
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
Added comment: More than 3 unrelated cases with tissue specific mosaic variants.

7 cases with congenital melanocytic naevi (CMN) identified a BRAF missense mutation (p.V600E) from naevus biopsies.
Sanger sequencing of mutant BRAF (p.V600E) naevus cultured cells showed confirmed heterozygosity with an increase in somatic load compared to those extracted directly from whole tissue from CMN.
Expression of the BRAF variant protein in all naevus cells was identified using immunohistochemistry.
Sources: NHS GMS
Mosaic skin disorders v1.6 CSPP1 Bryony Thompson Marked gene: CSPP1 as ready
Mosaic skin disorders v1.6 CSPP1 Bryony Thompson Gene: cspp1 has been classified as Red List (Low Evidence).
Mosaic skin disorders v1.6 GJA1 Bryony Thompson Marked gene: GJA1 as ready
Mosaic skin disorders v1.6 GJA1 Bryony Thompson Gene: gja1 has been classified as Red List (Low Evidence).
Mosaic skin disorders v1.6 GJA1 Bryony Thompson Classified gene: GJA1 as Red List (low evidence)
Mosaic skin disorders v1.6 GJA1 Bryony Thompson Gene: gja1 has been classified as Red List (Low Evidence).
Mosaic skin disorders v1.5 CSPP1 Bryony Thompson Classified gene: CSPP1 as Red List (low evidence)
Mosaic skin disorders v1.5 CSPP1 Bryony Thompson Gene: cspp1 has been classified as Red List (Low Evidence).
Mosaic skin disorders v1.4 CARD14 Bryony Thompson Publications for gene: CARD14 were set to
Mosaic skin disorders v1.3 CARD14 Bryony Thompson Mode of pathogenicity for gene: CARD14 was changed from to Other
Mosaic skin disorders v1.2 CARD14 Bryony Thompson Classified gene: CARD14 as Amber List (moderate evidence)
Mosaic skin disorders v1.2 CARD14 Bryony Thompson Added comment: Comment on list classification: Now published data, but only 2 cases
Mosaic skin disorders v1.2 CARD14 Bryony Thompson Gene: card14 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders v1.1 GJA1 Sangavi Sivagnanasundram gene: GJA1 was added
gene: GJA1 was added to Mosaic skin disorders. Sources: Other
Mode of inheritance for gene: GJA1 was set to Unknown
Publications for gene: GJA1 were set to 27890787
Phenotypes for gene: GJA1 were set to Inflammatory linear verrucous epidermal naevus (ILVEN)
Mode of pathogenicity for gene: GJA1 was set to Other
Review for gene: GJA1 was set to RED
Added comment: Only published in one article.
Somatic mutation p.A44V identified in one individual with ILVEN.
Sources: Other
Mosaic skin disorders v1.1 CARD14 Sangavi Sivagnanasundram reviewed gene: CARD14: Rating: AMBER; Mode of pathogenicity: Other; Publications: 34116062; Phenotypes: Inflammatory linear verrucous epidermal naevus (ILVEN); Mode of inheritance: None
Mosaic skin disorders v1.1 CSPP1 Sangavi Sivagnanasundram gene: CSPP1 was added
gene: CSPP1 was added to Mosaic skin disorders. Sources: Other
Mode of inheritance for gene: CSPP1 was set to Unknown
Publications for gene: CSPP1 were set to https://doi.org/10.1016/S2096-6911(21)00044-3
Phenotypes for gene: CSPP1 were set to Inflammatory linear verrucous epidermal naevus (ILVEN)
Mode of pathogenicity for gene: CSPP1 was set to Other
Review for gene: CSPP1 was set to RED
Added comment: Only one Chinese journal published relating to ILVEN - not on pubmed
1 somatic heterozygous mutation (R698X) was identified in a 10yr old individual.
Sources: Other
Mosaic skin disorders v1.1 Zornitza Stark HPO terms changed from to Abnormality of skin pigmentation, HP:0001000
List of related panels changed from to Abnormality of skin pigmentation; HP:0001000
Mosaic skin disorders v1.0 Zornitza Stark promoted panel to version 1.0
Mosaic skin disorders v0.41 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease; Tasmanian Clinical Genetics Service
Mosaic skin disorders v0.40 CARD14 Zornitza Stark Marked gene: CARD14 as ready
Mosaic skin disorders v0.40 CARD14 Zornitza Stark Gene: card14 has been classified as Red List (Low Evidence).
Mosaic skin disorders v0.40 CARD14 Zornitza Stark Phenotypes for gene: CARD14 were changed from ILVEN (submitted 2 cases) to Inflammatory linear verrucous epidermal naevus
Mosaic skin disorders v0.39 CARD14 Zornitza Stark changed review comment from: Cannot find evidence for somatic mosaicism.; to: Unpublished data.
Mosaic skin disorders v0.39 CARD14 Zornitza Stark edited their review of gene: CARD14: Changed phenotypes: Inflammatory linear verrucous epidermal naevus
Mosaic skin disorders v0.39 CARD14 Zornitza Stark reviewed gene: CARD14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pityriasis rubra pilaris, MIM# 173200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.39 TEK Zornitza Stark Marked gene: TEK as ready
Mosaic skin disorders v0.39 TEK Zornitza Stark Gene: tek has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders v0.39 TEK Zornitza Stark reviewed gene: TEK: Rating: AMBER; Mode of pathogenicity: None; Publications: 27519652; Phenotypes: Venous malformations, multiple cutaneous and mucosal, 600195; Mode of inheritance: None
Mosaic skin disorders v0.39 MAP2K1 Zornitza Stark Marked gene: MAP2K1 as ready
Mosaic skin disorders v0.39 MAP2K1 Zornitza Stark Gene: map2k1 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders v0.39 MAP2K1 Zornitza Stark Phenotypes for gene: MAP2K1 were changed from Cardio-facio-cutaneous syndrome to vascular malformations
Mosaic skin disorders v0.38 TSC2 Zornitza Stark Tag somatic tag was added to gene: TSC2.
Mosaic skin disorders v0.38 TSC1 Zornitza Stark Tag somatic tag was added to gene: TSC1.
Mosaic skin disorders v0.38 PIK3R2 Zornitza Stark Tag somatic tag was added to gene: PIK3R2.
Mosaic skin disorders v0.38 NF2 Zornitza Stark Tag somatic tag was added to gene: NF2.
Mosaic skin disorders v0.38 NF1 Zornitza Stark Tag somatic tag was added to gene: NF1.
Mosaic skin disorders v0.38 MTOR Zornitza Stark Tag somatic tag was added to gene: MTOR.
Mosaic skin disorders v0.38 MAP3K3 Zornitza Stark Tag somatic tag was added to gene: MAP3K3.
Mosaic skin disorders v0.38 GNAQ Zornitza Stark Tag somatic tag was added to gene: GNAQ.
Mosaic skin disorders v0.38 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Mosaic skin disorders v0.37 TSC2 Zornitza Stark Marked gene: TSC2 as ready
Mosaic skin disorders v0.37 TSC2 Zornitza Stark Gene: tsc2 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.37 TSC2 Zornitza Stark Phenotypes for gene: TSC2 were changed from to Tuberous sclerosis-2, MIM# 613254
Mosaic skin disorders v0.36 TSC2 Zornitza Stark Classified gene: TSC2 as Green List (high evidence)
Mosaic skin disorders v0.36 TSC2 Zornitza Stark Gene: tsc2 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.35 TSC2 Zornitza Stark reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-2, MIM# 613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.35 TSC1 Zornitza Stark Marked gene: TSC1 as ready
Mosaic skin disorders v0.35 TSC1 Zornitza Stark Gene: tsc1 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.35 TSC1 Zornitza Stark Phenotypes for gene: TSC1 were changed from to Tuberous sclerosis-1, MIM# 191100
Mosaic skin disorders v0.34 TSC1 Zornitza Stark Classified gene: TSC1 as Green List (high evidence)
Mosaic skin disorders v0.34 TSC1 Zornitza Stark Gene: tsc1 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.33 TSC1 Zornitza Stark reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-1, MIM# 191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.33 PIK3R2 Zornitza Stark Marked gene: PIK3R2 as ready
Mosaic skin disorders v0.33 PIK3R2 Zornitza Stark Gene: pik3r2 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.33 PIK3R2 Zornitza Stark Phenotypes for gene: PIK3R2 were changed from to Megalencephaly syndromes
Mosaic skin disorders v0.32 PIK3R2 Zornitza Stark Classified gene: PIK3R2 as Green List (high evidence)
Mosaic skin disorders v0.32 PIK3R2 Zornitza Stark Gene: pik3r2 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.31 PIK3R2 Zornitza Stark reviewed gene: PIK3R2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Megalencephaly syndromes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.31 AKT3 Zornitza Stark Marked gene: AKT3 as ready
Mosaic skin disorders v0.31 AKT3 Zornitza Stark Gene: akt3 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.31 AKT3 Zornitza Stark Phenotypes for gene: AKT3 were changed from to Megalencephaly syndromes
Mosaic skin disorders v0.30 AKT3 Zornitza Stark Publications for gene: AKT3 were set to PMID: 22729224
Mosaic skin disorders v0.29 AKT3 Zornitza Stark reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28969385; Phenotypes: Megalencephaly syndromes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.29 AKT3 Zornitza Stark Tag somatic tag was added to gene: AKT3.
Mosaic skin disorders v0.29 AKT3 Zornitza Stark Classified gene: AKT3 as Green List (high evidence)
Mosaic skin disorders v0.29 AKT3 Zornitza Stark Gene: akt3 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.28 PTPN11 Zornitza Stark Marked gene: PTPN11 as ready
Mosaic skin disorders v0.28 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Red List (Low Evidence).
Mosaic skin disorders v0.28 PTPN11 Zornitza Stark Classified gene: PTPN11 as Red List (low evidence)
Mosaic skin disorders v0.28 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Red List (Low Evidence).
Mosaic skin disorders v0.27 PTPN11 Zornitza Stark reviewed gene: PTPN11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mosaic skin disorders v0.27 PMVK Zornitza Stark Publications for gene: PMVK were set to 30942823
Mosaic skin disorders v0.26 PMVK Zornitza Stark edited their review of gene: PMVK: Changed publications: 26202976
Mosaic skin disorders v0.26 PMVK Zornitza Stark Marked gene: PMVK as ready
Mosaic skin disorders v0.26 PMVK Zornitza Stark Gene: pmvk has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders v0.26 PMVK Zornitza Stark Phenotypes for gene: PMVK were changed from Linear porokeratosis to Linear porokeratosis; Porokeratosis 1, multiple types, MIM# 175800
Mosaic skin disorders v0.25 PMVK Zornitza Stark reviewed gene: PMVK: Rating: AMBER; Mode of pathogenicity: None; Publications: Porokeratosis 1, multiple types, MIM# 175800; Phenotypes: Porokeratosis 1, multiple types, MIM# 175800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.25 MVD Zornitza Stark Marked gene: MVD as ready
Mosaic skin disorders v0.25 MVD Zornitza Stark Gene: mvd has been classified as Green List (High Evidence).
Mosaic skin disorders v0.25 MVD Zornitza Stark Phenotypes for gene: MVD were changed from Linear porokeratosis to Linear porokeratosis; Porokeratosis 7, multiple types, MIM# 614714
Mosaic skin disorders v0.24 MVD Zornitza Stark Publications for gene: MVD were set to 30942823
Mosaic skin disorders v0.23 MVD Zornitza Stark Classified gene: MVD as Green List (high evidence)
Mosaic skin disorders v0.23 MVD Zornitza Stark Gene: mvd has been classified as Green List (High Evidence).
Mosaic skin disorders v0.22 MVD Zornitza Stark reviewed gene: MVD: Rating: GREEN; Mode of pathogenicity: None; Publications: 33491095; Phenotypes: Porokeratosis 7, multiple types, MIM# 614714; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.22 IKBKG Zornitza Stark Marked gene: IKBKG as ready
Mosaic skin disorders v0.22 IKBKG Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence).
Mosaic skin disorders v0.22 IKBKG Zornitza Stark Tag somatic tag was added to gene: IKBKG.
Mosaic skin disorders v0.22 IKBKG Zornitza Stark Phenotypes for gene: IKBKG were changed from Ectodermal dysplasia and immunodeficiency 1, 300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301; Incontinentia pigmenti, 308300 to Incontinentia pigmenti, 308300
Mosaic skin disorders v0.21 IKBKG Zornitza Stark Publications for gene: IKBKG were set to
Mosaic skin disorders v0.20 IKBKG Zornitza Stark Classified gene: IKBKG as Green List (high evidence)
Mosaic skin disorders v0.20 IKBKG Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence).
Mosaic skin disorders v0.19 IKBKG Zornitza Stark reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: None; Publications: 32908217, 29077987; Phenotypes: Incontinentia pigment, MIM#i 308300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mosaic skin disorders v0.19 FGFR2 Zornitza Stark Tag somatic tag was added to gene: FGFR2.
Mosaic skin disorders v0.19 FGFR2 Zornitza Stark Marked gene: FGFR2 as ready
Mosaic skin disorders v0.19 FGFR2 Zornitza Stark Gene: fgfr2 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.19 FGFR2 Zornitza Stark Phenotypes for gene: FGFR2 were changed from Epdermal naevi to Keratinocytic epidermal naevi
Mosaic skin disorders v0.18 FGFR2 Zornitza Stark Publications for gene: FGFR2 were set to 9728990
Mosaic skin disorders v0.17 FGFR2 Zornitza Stark Classified gene: FGFR2 as Green List (high evidence)
Mosaic skin disorders v0.17 FGFR2 Zornitza Stark Gene: fgfr2 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.16 FGFR2 Zornitza Stark reviewed gene: FGFR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31937562, 30580445; Phenotypes: Keratinocytic epidermal naevi; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.16 ATP2A2 Zornitza Stark Marked gene: ATP2A2 as ready
Mosaic skin disorders v0.16 ATP2A2 Zornitza Stark Gene: atp2a2 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.16 ATP2A2 Zornitza Stark Phenotypes for gene: ATP2A2 were changed from to Darier disease, MIM# 124200
Mosaic skin disorders v0.15 ATP2A2 Zornitza Stark Publications for gene: ATP2A2 were set to
Mosaic skin disorders v0.14 ATP2A2 Zornitza Stark Classified gene: ATP2A2 as Green List (high evidence)
Mosaic skin disorders v0.14 ATP2A2 Zornitza Stark Gene: atp2a2 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.13 ATP2A2 Zornitza Stark Tag somatic tag was added to gene: ATP2A2.
Mosaic skin disorders v0.13 ATP2A2 Zornitza Stark reviewed gene: ATP2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30085326, 26154588, 21720150, 12890216; Phenotypes: Darier disease, MIM# 124200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.13 SPRED1 Zornitza Stark Marked gene: SPRED1 as ready
Mosaic skin disorders v0.13 SPRED1 Zornitza Stark Gene: spred1 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.13 SPRED1 Zornitza Stark Phenotypes for gene: SPRED1 were changed from Legius syndrome to Legius syndrome, MIM# 611431
Mosaic skin disorders v0.12 SPRED1 Zornitza Stark Tag somatic tag was added to gene: SPRED1.
Mosaic skin disorders v0.12 SPRED1 Zornitza Stark reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Legius syndrome, MIM# 611431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.12 SMO Zornitza Stark Marked gene: SMO as ready
Mosaic skin disorders v0.12 SMO Zornitza Stark Gene: smo has been classified as Green List (High Evidence).
Mosaic skin disorders v0.12 SMO Zornitza Stark Phenotypes for gene: SMO were changed from Curry-Jones syndrome to Curry-Jones syndrome, MIM#601707
Mosaic skin disorders v0.11 SMO Zornitza Stark reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Curry-Jones syndrome, MIM#601707; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.11 SMO Zornitza Stark Tag somatic tag was added to gene: SMO.
Mosaic skin disorders v0.11 RHOA Zornitza Stark Marked gene: RHOA as ready
Mosaic skin disorders v0.11 RHOA Zornitza Stark Gene: rhoa has been classified as Green List (High Evidence).
Mosaic skin disorders v0.11 RHOA Zornitza Stark Tag somatic tag was added to gene: RHOA.
Mosaic skin disorders v0.11 RHOA Zornitza Stark reviewed gene: RHOA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Blaschko-linear hypopigmentation syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.11 RASA1 Zornitza Stark Marked gene: RASA1 as ready
Mosaic skin disorders v0.11 RASA1 Zornitza Stark Gene: rasa1 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders v0.11 RASA1 Zornitza Stark Classified gene: RASA1 as Amber List (moderate evidence)
Mosaic skin disorders v0.11 RASA1 Zornitza Stark Gene: rasa1 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders v0.10 RASA1 Zornitza Stark reviewed gene: RASA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Capillary malformation-arteriovenous malformation syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.10 PTEN Zornitza Stark Tag somatic tag was added to gene: PTEN.
Mosaic skin disorders v0.10 PTEN Zornitza Stark Marked gene: PTEN as ready
Mosaic skin disorders v0.10 PTEN Zornitza Stark Gene: pten has been classified as Green List (High Evidence).
Mosaic skin disorders v0.10 PTEN Zornitza Stark reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermal naevi, Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Melanoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.10 PIK3CA Zornitza Stark Marked gene: PIK3CA as ready
Mosaic skin disorders v0.10 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Green List (High Evidence).
Mosaic skin disorders v0.10 PIK3CA Zornitza Stark Phenotypes for gene: PIK3CA were changed from Vascular malformations; PIK3CA-related overgrowth syndromes to Vascular malformations; PIK3CA-related overgrowth syndromes; CLAPO syndrome, somatic 613089; CLOVE syndrome, somatic 612918; Nevus, epidermal, somatic 162900
Mosaic skin disorders v0.9 PIK3CA Zornitza Stark Tag somatic tag was added to gene: PIK3CA.
Mosaic skin disorders v0.9 PIK3CA Zornitza Stark reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Vascular malformations, PIK3CA-related overgrowth syndromes, CLAPO syndrome, somatic 613089, CLOVE syndrome, somatic 612918, Nevus, epidermal, somatic 162900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.9 NRAS Zornitza Stark Tag somatic tag was added to gene: NRAS.
Mosaic skin disorders v0.9 NRAS Zornitza Stark Marked gene: NRAS as ready
Mosaic skin disorders v0.9 NRAS Zornitza Stark Gene: nras has been classified as Green List (High Evidence).
Mosaic skin disorders v0.9 NRAS Zornitza Stark reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Melanocytic naevi, Congenital melanocytic naevus syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.9 NF2 Zornitza Stark Marked gene: NF2 as ready
Mosaic skin disorders v0.9 NF2 Zornitza Stark Gene: nf2 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.9 NF2 Zornitza Stark Phenotypes for gene: NF2 were changed from NF2; NEUROFIBROMATOSIS, TYPE II to Schwannomatosis, somatic 162091; Meningioma, NF2-related, somatic 607174; Neurofibromatosis, type 2 101000
Mosaic skin disorders v0.8 NF2 Zornitza Stark Mode of inheritance for gene: NF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.7 NF2 Zornitza Stark edited their review of gene: NF2: Changed publications: 29409008
Mosaic skin disorders v0.7 NF2 Zornitza Stark reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Schwannomatosis, somatic 162091, Meningioma, NF2-related, somatic 607174, Neurofibromatosis, type 2 101000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.7 NF1 Zornitza Stark Marked gene: NF1 as ready
Mosaic skin disorders v0.7 NF1 Zornitza Stark Gene: nf1 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.7 NF1 Zornitza Stark Phenotypes for gene: NF1 were changed from Neurofibromatosis type I to Neurofibromatosis type I, MIM#162200
Mosaic skin disorders v0.6 NF1 Zornitza Stark edited their review of gene: NF1: Changed phenotypes: Neurofibromatosis type I, MIM#162200
Mosaic skin disorders v0.6 NF1 Zornitza Stark reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis type I; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.6 MTOR Zornitza Stark Marked gene: MTOR as ready
Mosaic skin disorders v0.6 MTOR Zornitza Stark Gene: mtor has been classified as Green List (High Evidence).
Mosaic skin disorders v0.6 MTOR Zornitza Stark reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypomelanosis of Ito/Blaschko-linear hypopigmentation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.6 MAP3K3 Zornitza Stark Marked gene: MAP3K3 as ready
Mosaic skin disorders v0.6 MAP3K3 Zornitza Stark Gene: map3k3 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.6 MAP3K3 Zornitza Stark reviewed gene: MAP3K3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Verrucous haemangiomas; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.6 GNAS Zornitza Stark Tag somatic tag was added to gene: GNAS.
Mosaic skin disorders v0.6 Zornitza Stark Panel types changed to Rare Disease
Mosaic skin disorders v0.5 MAP2K1 Zornitza Stark Classified gene: MAP2K1 as Amber List (moderate evidence)
Mosaic skin disorders v0.5 MAP2K1 Zornitza Stark Gene: map2k1 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders v0.4 MAP2K1 Zornitza Stark reviewed gene: MAP2K1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: vascular malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.4 KRT10 Zornitza Stark Marked gene: KRT10 as ready
Mosaic skin disorders v0.4 KRT10 Zornitza Stark Gene: krt10 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.4 KRT10 Zornitza Stark edited their review of gene: KRT10: Changed phenotypes: Epidermolytic hyperkeratosis MIM#113800, Pachyonychia congenita, Ichythosis with confetti, MIM#609165, Palmoplantar keratoderma
Mosaic skin disorders v0.4 KRT10 Zornitza Stark reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolytic hyperkeratosis, Pachyonychia congenita, Ichythosis with confetti, Palmoplantar keratoderma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.4 KRT1 Zornitza Stark Marked gene: KRT1 as ready
Mosaic skin disorders v0.4 KRT1 Zornitza Stark Gene: krt1 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.4 KRT1 Zornitza Stark Tag somatic tag was added to gene: KRT1.
Mosaic skin disorders v0.4 KRT1 Zornitza Stark reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis histrix, Epidermolytic hyperkeratosis, Palmoplantar keratoderma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.4 KRAS Zornitza Stark Marked gene: KRAS as ready
Mosaic skin disorders v0.4 KRAS Zornitza Stark Gene: kras has been classified as Green List (High Evidence).
Mosaic skin disorders v0.4 KRAS Zornitza Stark Tag somatic tag was added to gene: KRAS.
Mosaic skin disorders v0.4 KRAS Zornitza Stark reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermal naevi, Schimmelpenning syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.4 IDH2 Zornitza Stark Marked gene: IDH2 as ready
Mosaic skin disorders v0.4 IDH2 Zornitza Stark Gene: idh2 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.4 IDH2 Zornitza Stark Tag somatic tag was added to gene: IDH2.
Mosaic skin disorders v0.4 IDH2 Zornitza Stark reviewed gene: IDH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maffucci syndrome, Ollier disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.4 IDH1 Zornitza Stark Marked gene: IDH1 as ready
Mosaic skin disorders v0.4 IDH1 Zornitza Stark Gene: idh1 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.4 IDH1 Zornitza Stark Tag somatic tag was added to gene: IDH1.
Mosaic skin disorders v0.4 IDH1 Zornitza Stark reviewed gene: IDH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maffucci syndrome, Ollier disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.4 HRAS Zornitza Stark Marked gene: HRAS as ready
Mosaic skin disorders v0.4 HRAS Zornitza Stark Gene: hras has been classified as Green List (High Evidence).
Mosaic skin disorders v0.4 HRAS Zornitza Stark Tag somatic tag was added to gene: HRAS.
Mosaic skin disorders v0.4 HRAS Zornitza Stark reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Phakomatosis pigmentokeratotica, Epidermal naevi, Woolly hair, Costello syndrome, Schimmelpenning syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.4 GNAS Zornitza Stark Marked gene: GNAS as ready
Mosaic skin disorders v0.4 GNAS Zornitza Stark Gene: gnas has been classified as Green List (High Evidence).
Mosaic skin disorders v0.4 GNAS Zornitza Stark Publications for gene: GNAS were set to 12970318
Mosaic skin disorders v0.3 GNAS Zornitza Stark reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: McCune-Albright syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.3 GNAQ Zornitza Stark Marked gene: GNAQ as ready
Mosaic skin disorders v0.3 GNAQ Zornitza Stark Gene: gnaq has been classified as Green List (High Evidence).
Mosaic skin disorders v0.3 GNAQ Zornitza Stark reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Extensive dermal melanocytosis, Sturge Weber syndrome, Phakomatosis pigmentovascularis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.3 GNA14 Zornitza Stark Marked gene: GNA14 as ready
Mosaic skin disorders v0.3 GNA14 Zornitza Stark Gene: gna14 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.3 GNA14 Zornitza Stark Tag somatic tag was added to gene: GNA14.
Mosaic skin disorders v0.3 GNA14 Zornitza Stark reviewed gene: GNA14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kaposiform endothelioma, Tufted angioma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.3 GNA11 Zornitza Stark Marked gene: GNA11 as ready
Mosaic skin disorders v0.3 GNA11 Zornitza Stark Gene: gna11 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.3 GNA11 Zornitza Stark Tag somatic tag was added to gene: GNA11.
Mosaic skin disorders v0.3 GNA11 Zornitza Stark reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Extensive dermal melanocytosis, Phakomatosis pigmentovascularis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.3 ACTB Zornitza Stark Tag somatic tag was added to gene: ACTB.
Mosaic skin disorders v0.3 AKT1 Zornitza Stark Tag somatic tag was added to gene: AKT1.
Mosaic skin disorders v0.3 FGFR1 Zornitza Stark Tag somatic tag was added to gene: FGFR1.
Mosaic skin disorders v0.3 FGFR3 Zornitza Stark Marked gene: FGFR3 as ready
Mosaic skin disorders v0.3 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.3 FGFR3 Zornitza Stark Tag somatic tag was added to gene: FGFR3.
Mosaic skin disorders v0.3 FGFR3 Zornitza Stark reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermal naevi, Syringocystadenoma papilliferum; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.3 FGFR1 Zornitza Stark Marked gene: FGFR1 as ready
Mosaic skin disorders v0.3 FGFR1 Zornitza Stark Gene: fgfr1 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.3 FGFR1 Zornitza Stark reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermal naevi; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.3 AKT1 Zornitza Stark Marked gene: AKT1 as ready
Mosaic skin disorders v0.3 AKT1 Zornitza Stark Gene: akt1 has been classified as Green List (High Evidence).
Mosaic skin disorders v0.3 AKT1 Zornitza Stark Phenotypes for gene: AKT1 were changed from Proteus syndrome to Proteus syndrome, somatic 176920
Mosaic skin disorders v0.2 AKT1 Zornitza Stark reviewed gene: AKT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33030203; Phenotypes: Proteus syndrome, somatic 176920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.2 ACTB Zornitza Stark Marked gene: ACTB as ready
Mosaic skin disorders v0.2 ACTB Zornitza Stark Gene: actb has been classified as Green List (High Evidence).
Mosaic skin disorders v0.2 ACTB Zornitza Stark Phenotypes for gene: ACTB were changed from to Becker's naevus
Mosaic skin disorders v0.1 PIK3R2 Mathew Wallis edited their review of gene: PIK3R2: Changed publications: PMID: 22729224
Mosaic skin disorders v0.1 PIK3R2 Mathew Wallis edited their review of gene: PIK3R2: Changed publications: PMID: 22729224, PMID: 22729224
Mosaic skin disorders v0.1 AKT3 Mathew Wallis gene: AKT3 was added
gene: AKT3 was added to Mosaic skin disorders. Sources: Literature
Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AKT3 were set to PMID: 22729224
Review for gene: AKT3 was set to GREEN
Added comment: Sources: Literature
Mosaic skin disorders v0.1 TSC2 Mathew Wallis changed review comment from: Sources: Literature, Expert Review; to: Sources: Literature
Mosaic skin disorders v0.1 TSC1 Mathew Wallis changed review comment from: Sources: Expert Review, Literature; to: Sources: Literature
Mosaic skin disorders v0.1 PIK3R2 Mathew Wallis gene: PIK3R2 was added
gene: PIK3R2 was added to Mosaic skin disorders. Sources: Literature
Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3R2 were set to PMID: 22729224
Review for gene: PIK3R2 was set to GREEN
Added comment: Sources: Literature
Mosaic skin disorders v0.1 TSC2 Mathew Wallis gene: TSC2 was added
gene: TSC2 was added to Mosaic skin disorders. Sources: Literature,Expert Review
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TSC2 were set to PMID: 26540169
Review for gene: TSC2 was set to GREEN
Added comment: Sources: Literature, Expert Review
Mosaic skin disorders v0.1 TSC1 Mathew Wallis gene: TSC1 was added
gene: TSC1 was added to Mosaic skin disorders. Sources: Expert Review,Literature
Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TSC1 were set to PMID: 26540169
Review for gene: TSC1 was set to GREEN
Added comment: Sources: Expert Review, Literature
Mosaic skin disorders v0.1 KRT10 Mathew Wallis reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29135017, PMID: 25495838; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 KRT10 Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 KRT1 Mathew Wallis reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28532675, PMID: 17255957; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 KRT1 Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 KRAS Mathew Wallis edited their review of gene: KRAS: Changed publications: PMID: 22499344, PMID: 22683711, PMID: 26970110, PMID: 25808193
Mosaic skin disorders v0.1 KRAS Mathew Wallis reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22499344, PMID: 22683711; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 KRAS Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 IDH2 Mathew Wallis reviewed gene: IDH2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID 22057234; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 IDH2 Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 IDH1 Mathew Wallis reviewed gene: IDH1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22057234; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 IDH1 Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 HRAS Mathew Wallis reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22499344, PMID: 22683711, PMID: 24006476; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 HRAS Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 GNAS Mathew Wallis edited their review of gene: GNAS: Changed publications: PMID: 12970318, PMID: 15126527, PMID: 10646121, PMID: 1594625, PMID: 1944469
Mosaic skin disorders v0.1 GNAS Mathew Wallis reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12970318; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 GNAS Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 GNAQ Mathew Wallis reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26778290; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 GNAQ Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 GNA14 Mathew Wallis reviewed gene: GNA14: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27476652; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 GNA14 Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 GNA11 Mathew Wallis reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26778290; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 GNA11 Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 FGFR3 Mathew Wallis reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16841094, PMID: 22499344; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 FGFR3 Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 FGFR1 Mathew Wallis reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26942290; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 FGFR1 Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 AKT1 Mathew Wallis reviewed gene: AKT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21793738; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 AKT1 Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 ACTB Mathew Wallis reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28347698; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 ACTB Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 SPRED1 Mathew Wallis reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27423141; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 SMO Mathew Wallis reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27236920; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 RHOA Mathew Wallis reviewed gene: RHOA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31570889; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 RASA1 Mathew Wallis reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24038909, PMID: 30635911; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 PTEN Mathew Wallis reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10749983, PMID: 12471211; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 PIK3CA Mathew Wallis reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22499344, PMID: 22729224, PMID: 29446767, PMID: 23100325; Phenotypes: ; Mode of inheritance: None
Mosaic skin disorders v0.1 NRAS Mathew Wallis reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22499344, PMID: 24006476, PMID: 10878667; Phenotypes: ; Mode of inheritance: None
Mosaic skin disorders v0.1 NF1 Mathew Wallis reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17668375, PMID: 14605872; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 MTOR Mathew Wallis reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27159400; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 MAP3K3 Mathew Wallis reviewed gene: MAP3K3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25728774; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 MAP2K1 Mathew Wallis reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29461977; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 KRT10 Mathew Wallis reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29135017, PMID: 25495838; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 KRT1 Mathew Wallis reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28532675, PMID: 17255957; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 KRAS Mathew Wallis reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22499344, PMID: 22683711; Phenotypes: Linear sebaceous nevus syndrome (163200), Oculoectodermal syndrome (600268); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 IDH2 Mathew Wallis reviewed gene: IDH2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID 22057234; Phenotypes: Maffucci syndrome, Ollier disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 ACTB Mathew Wallis reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28347698; Phenotypes: Becker naevus (604919); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 ACTB Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 IDH1 Mathew Wallis reviewed gene: IDH1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22057234; Phenotypes: Maffucci syndrome, Ollier disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 IDH1 Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 IDH1 Mathew Wallis reviewed gene: IDH1: 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: PMID: 22057234; Phenotypes: Maffucci syndrome, Ollier disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 HRAS Mathew Wallis reviewed gene: HRAS: 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: PMID: 22499344, PMID: 22683711, PMID: 24006476; Phenotypes: Epidermal nevus (162900), Linear sebaceous nevus syndrome (163200), Congenital melanocytic nevus (137550); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 GNA14 Mathew Wallis reviewed gene: GNA14: 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: PMID: 27476652; Phenotypes: tufted angiomas (TA), laposiform hemangioendotheliomas (KHE), lobular capillary hemangiomas (LCH); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 ACTB Mathew Wallis reviewed gene: ACTB: 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: PMID: 28347698; Phenotypes: Becker naevus (604919); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 GNAS Mathew Wallis reviewed gene: GNAS: 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: PMID: 12970318; Phenotypes: McCune-Albright syndrome (174800); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 GNAQ Mathew Wallis reviewed gene: GNAQ: 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: PMID: 26778290; Phenotypes: Sturge Weber syndrome, Phakomatosis pigmentovascularis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 GNA11 Mathew Wallis reviewed gene: GNA11: 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: PMID: 26778290; Phenotypes: Phakomatosis pigmentovascularis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 FGFR1 Mathew Wallis Deleted their comment
Mosaic skin disorders v0.1 FGFR3 Mathew Wallis reviewed gene: FGFR3: 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: PMID: 16841094, PMID: 22499344; Phenotypes: Epidermal naevi (162900); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 FGFR1 Mathew Wallis reviewed gene: FGFR1: 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: PMID: 26942290; Phenotypes: Encephalocraniocutaneous Lipomatosis (613001); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 AKT1 Mathew Wallis reviewed gene: AKT1: 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: PMID: 21793738; Phenotypes: Proteus syndrome (176920); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.1 AKT1 Mathew Wallis Deleted their review
Mosaic skin disorders v0.1 AKT1 Mathew Wallis reviewed gene: AKT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID 21793738; Phenotypes: Proteus syndrome (176920); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders v0.0 CARD14 Zornitza Stark gene: CARD14 was added
gene: CARD14 was added to Mosaic skin disorders. Sources: NHS GMS,Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: CARD14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CARD14 were set to ILVEN (submitted 2 cases)
Mosaic skin disorders v0.0 TEK Zornitza Stark gene: TEK was added
gene: TEK was added to Mosaic skin disorders. Sources: Expert Review Amber,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TEK were set to 27519652
Phenotypes for gene: TEK were set to Venous malformations, multiple cutaneous and mucosal, 600195
Mosaic skin disorders v0.0 PTPN11 Zornitza Stark gene: PTPN11 was added
gene: PTPN11 was added to Mosaic skin disorders. Sources: Expert Review Amber,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTPN11 were set to Mosaic case series shortly to be published by Kinsler group
Phenotypes for gene: PTPN11 were set to Noonan syndrome; Noonan syndrome with lentigines (LEOPARD)
Mosaic skin disorders v0.0 PMVK Zornitza Stark gene: PMVK was added
gene: PMVK was added to Mosaic skin disorders. Sources: Expert Review Amber,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: PMVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PMVK were set to 30942823
Phenotypes for gene: PMVK were set to Linear porokeratosis
Mosaic skin disorders v0.0 MVD Zornitza Stark gene: MVD was added
gene: MVD was added to Mosaic skin disorders. Sources: Expert Review Amber,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: MVD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MVD were set to 30942823
Phenotypes for gene: MVD were set to Linear porokeratosis
Mosaic skin disorders v0.0 IKBKG Zornitza Stark gene: IKBKG was added
gene: IKBKG was added to Mosaic skin disorders. Sources: Expert Review Amber,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: IKBKG 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: IKBKG were set to Ectodermal dysplasia and immunodeficiency 1, 300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301; Incontinentia pigmenti, 308300
Mosaic skin disorders v0.0 FGFR2 Zornitza Stark gene: FGFR2 was added
gene: FGFR2 was added to Mosaic skin disorders. Sources: Expert Review Amber,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGFR2 were set to 9728990
Phenotypes for gene: FGFR2 were set to Epdermal naevi
Mosaic skin disorders v0.0 ATP2A2 Zornitza Stark gene: ATP2A2 was added
gene: ATP2A2 was added to Mosaic skin disorders. Sources: Expert Review Amber,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: ATP2A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mosaic skin disorders v0.0 SPRED1 Zornitza Stark gene: SPRED1 was added
gene: SPRED1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPRED1 were set to 27423141
Phenotypes for gene: SPRED1 were set to Legius syndrome
Mosaic skin disorders v0.0 SMO Zornitza Stark gene: SMO was added
gene: SMO was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMO were set to 27236920
Phenotypes for gene: SMO were set to Curry-Jones syndrome
Mosaic skin disorders v0.0 RHOA Zornitza Stark gene: RHOA was added
gene: RHOA was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: RHOA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RHOA were set to 31570889
Phenotypes for gene: RHOA were set to Blaschko-linear hypopigmentation syndrome
Mosaic skin disorders v0.0 RASA1 Zornitza Stark gene: RASA1 was added
gene: RASA1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RASA1 were set to 30635911; 24038909
Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation syndrome
Mosaic skin disorders v0.0 PTEN Zornitza Stark gene: PTEN was added
gene: PTEN was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTEN were set to 12471211; 10749983
Phenotypes for gene: PTEN were set to Epidermal naevi; Cowden syndrome; Bannayan-Riley-Ruvalcaba syndrome; Melanoma
Mosaic skin disorders v0.0 PIK3CA Zornitza Stark gene: PIK3CA was added
gene: PIK3CA was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3CA were set to 22499344; 23100325; 22729224; 29446767
Phenotypes for gene: PIK3CA were set to Vascular malformations; PIK3CA-related overgrowth syndromes
Mosaic skin disorders v0.0 NRAS Zornitza Stark gene: NRAS was added
gene: NRAS was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NRAS were set to 22499344; 24006476; 10878667
Phenotypes for gene: NRAS were set to Noonan syndrome; Melanocytic naevi; Congenital melanocytic naevus syndrome
Mosaic skin disorders v0.0 NF2 Zornitza Stark gene: NF2 was added
gene: NF2 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NF2 were set to 29409008
Phenotypes for gene: NF2 were set to NF2; NEUROFIBROMATOSIS, TYPE II
Mosaic skin disorders v0.0 NF1 Zornitza Stark gene: NF1 was added
gene: NF1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NF1 were set to 14605872; 17668375
Phenotypes for gene: NF1 were set to Neurofibromatosis type I
Mosaic skin disorders v0.0 MTOR Zornitza Stark gene: MTOR was added
gene: MTOR was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: MTOR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MTOR were set to 27159400
Phenotypes for gene: MTOR were set to Hypomelanosis of Ito/Blaschko-linear hypopigmentation
Mosaic skin disorders v0.0 MAP3K3 Zornitza Stark gene: MAP3K3 was added
gene: MAP3K3 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: MAP3K3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP3K3 were set to 25728774
Phenotypes for gene: MAP3K3 were set to Verrucous haemangiomas
Mosaic skin disorders v0.0 MAP2K1 Zornitza Stark gene: MAP2K1 was added
gene: MAP2K1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP2K1 were set to 29461977
Phenotypes for gene: MAP2K1 were set to Cardio-facio-cutaneous syndrome
Mosaic skin disorders v0.0 KRT10 Zornitza Stark gene: KRT10 was added
gene: KRT10 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: KRT10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT10 were set to 25495838; 29135017
Phenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis; Pachyonychia congenita; Ichythosis with confetti; Palmoplantar keratoderma
Mosaic skin disorders v0.0 KRT1 Zornitza Stark gene: KRT1 was added
gene: KRT1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT1 were set to 28532675; 17255957
Phenotypes for gene: KRT1 were set to Ichthyosis histrix; Epidermolytic hyperkeratosis; Palmoplantar keratoderma
Mosaic skin disorders v0.0 KRAS Zornitza Stark gene: KRAS was added
gene: KRAS was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRAS were set to 22499344; 22683711
Phenotypes for gene: KRAS were set to Epidermal naevi; Schimmelpenning syndrome
Mosaic skin disorders v0.0 IDH2 Zornitza Stark gene: IDH2 was added
gene: IDH2 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IDH2 were set to 22057234
Phenotypes for gene: IDH2 were set to Maffucci syndrome; Ollier disease
Mosaic skin disorders v0.0 IDH1 Zornitza Stark gene: IDH1 was added
gene: IDH1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: IDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IDH1 were set to 22057234
Phenotypes for gene: IDH1 were set to Maffucci syndrome; Ollier disease
Mosaic skin disorders v0.0 HRAS Zornitza Stark gene: HRAS was added
gene: HRAS was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HRAS were set to 22499344; 22683711; 24006476
Phenotypes for gene: HRAS were set to Phakomatosis pigmentokeratotica; Epidermal naevi; Woolly hair; Costello syndrome; Schimmelpenning syndrome
Mosaic skin disorders v0.0 GNAS Zornitza Stark gene: GNAS was added
gene: GNAS was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNAS were set to 12970318
Phenotypes for gene: GNAS were set to McCune-Albright syndrome
Mosaic skin disorders v0.0 GNAQ Zornitza Stark gene: GNAQ was added
gene: GNAQ was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: GNAQ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNAQ were set to 26778290
Phenotypes for gene: GNAQ were set to Extensive dermal melanocytosis; Sturge Weber syndrome; Phakomatosis pigmentovascularis
Mosaic skin disorders v0.0 GNA14 Zornitza Stark gene: GNA14 was added
gene: GNA14 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: GNA14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNA14 were set to 27476652
Phenotypes for gene: GNA14 were set to Kaposiform endothelioma; Tufted angioma
Mosaic skin disorders v0.0 GNA11 Zornitza Stark gene: GNA11 was added
gene: GNA11 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNA11 were set to 26778290
Phenotypes for gene: GNA11 were set to Extensive dermal melanocytosis; Phakomatosis pigmentovascularis
Mosaic skin disorders v0.0 FGFR3 Zornitza Stark gene: FGFR3 was added
gene: FGFR3 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGFR3 were set to 22499344; 16841094
Phenotypes for gene: FGFR3 were set to Epidermal naevi; Syringocystadenoma papilliferum
Mosaic skin disorders v0.0 FGFR1 Zornitza Stark gene: FGFR1 was added
gene: FGFR1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGFR1 were set to 26942290
Phenotypes for gene: FGFR1 were set to Epidermal naevi
Mosaic skin disorders v0.0 AKT1 Zornitza Stark gene: AKT1 was added
gene: AKT1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: AKT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AKT1 were set to 33030203; 21793738
Phenotypes for gene: AKT1 were set to Proteus syndrome
Mosaic skin disorders v0.0 ACTB Zornitza Stark gene: ACTB was added
gene: ACTB was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTB were set to 28347698
Mosaic skin disorders v0.0 Zornitza Stark Added panel Mosaic skin disorders