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Facial papules v1.0 Bryony Thompson promoted panel to version 1.0
Facial papules v0.49 Bryony Thompson Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Facial papules v0.48 ANTXR2 Bryony Thompson Marked gene: ANTXR2 as ready
Facial papules v0.48 ANTXR2 Bryony Thompson Gene: antxr2 has been classified as Green List (High Evidence).
Facial papules v0.48 ANTXR2 Bryony Thompson Classified gene: ANTXR2 as Green List (high evidence)
Facial papules v0.48 ANTXR2 Bryony Thompson Gene: antxr2 has been classified as Green List (High Evidence).
Facial papules v0.47 ANTXR2 Bryony Thompson gene: ANTXR2 was added
gene: ANTXR2 was added to Facial papules. Sources: Literature
Mode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANTXR2 were set to 20301698
Phenotypes for gene: ANTXR2 were set to hyaline fibromatosis syndrome MONDO:0009229
Review for gene: ANTXR2 was set to GREEN
gene: ANTXR2 was marked as current diagnostic
Added comment: Coarse facies and pearly papules on the face are common features of the condition.
Sources: Literature
Facial papules v0.46 IDS Bryony Thompson Marked gene: IDS as ready
Facial papules v0.46 IDS Bryony Thompson Gene: ids has been classified as Green List (High Evidence).
Facial papules v0.46 IDS Bryony Thompson Classified gene: IDS as Green List (high evidence)
Facial papules v0.46 IDS Bryony Thompson Gene: ids has been classified as Green List (High Evidence).
Facial papules v0.45 IDS Bryony Thompson gene: IDS was added
gene: IDS was added to Facial papules. Sources: Expert list
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IDS were set to 20301451
Phenotypes for gene: IDS were set to Mucopolysaccharidosis type 2 MONDO:0010674
Review for gene: IDS was set to GREEN
gene: IDS was marked as current diagnostic
Added comment: Coarse facies is a feature of mucopolysaccharidosis type 2
Sources: Expert list
Facial papules v0.44 IDUA Bryony Thompson Marked gene: IDUA as ready
Facial papules v0.44 IDUA Bryony Thompson Gene: idua has been classified as Green List (High Evidence).
Facial papules v0.44 IDUA Bryony Thompson Classified gene: IDUA as Green List (high evidence)
Facial papules v0.44 IDUA Bryony Thompson Gene: idua has been classified as Green List (High Evidence).
Facial papules v0.43 IDUA Bryony Thompson gene: IDUA was added
gene: IDUA was added to Facial papules. Sources: Expert list
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IDUA were set to 20301341
Phenotypes for gene: IDUA were set to Mucopolysaccharidosis type 1 MONDO:0001586
Review for gene: IDUA was set to GREEN
gene: IDUA was marked as current diagnostic
Added comment: Coarse facies is prevalent in severe mucopolysaccharidosis and can be present to a lesser degree in attenuated mucopolysaccharidosis.
Sources: Expert list
Facial papules v0.42 MLH1 Bryony Thompson Phenotypes for gene: MLH1 were changed from Lynch syndrome MONDO:0005835 to Lynch syndrome MONDO:0005835; Muir-Torre syndrome MONDO:0008018
Facial papules v0.41 MSH2 Bryony Thompson Marked gene: MSH2 as ready
Facial papules v0.41 MSH2 Bryony Thompson Gene: msh2 has been classified as Green List (High Evidence).
Facial papules v0.41 MSH2 Bryony Thompson Classified gene: MSH2 as Green List (high evidence)
Facial papules v0.41 MSH2 Bryony Thompson Gene: msh2 has been classified as Green List (High Evidence).
Facial papules v0.40 MSH2 Bryony Thompson gene: MSH2 was added
gene: MSH2 was added to Facial papules. Sources: Expert list
Mode of inheritance for gene: MSH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MSH2 were set to 20301390; 11231323; 14994245; 15235030; 8931714; 8751876; 9634524
Phenotypes for gene: MSH2 were set to Lynch syndrome MONDO:0005835; Muir-Torre syndrome MONDO:0008018
Review for gene: MSH2 was set to GREEN
gene: MSH2 was marked as current diagnostic
Added comment: The Lynch syndrome variant Muir-Torre syndrome includes sebaceous neoplasms of the skin (including the face) as a main feature of the condition.
Sources: Expert list
Facial papules v0.39 MLH1 Bryony Thompson Marked gene: MLH1 as ready
Facial papules v0.39 MLH1 Bryony Thompson Gene: mlh1 has been classified as Green List (High Evidence).
Facial papules v0.39 MLH1 Bryony Thompson Classified gene: MLH1 as Green List (high evidence)
Facial papules v0.39 MLH1 Bryony Thompson Gene: mlh1 has been classified as Green List (High Evidence).
Facial papules v0.38 MLH1 Bryony Thompson gene: MLH1 was added
gene: MLH1 was added to Facial papules. Sources: Expert list
Mode of inheritance for gene: MLH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MLH1 were set to 20301390; 11231323; 14994245; 15235030; 8931714; 8751876; 9634524
Phenotypes for gene: MLH1 were set to Lynch syndrome MONDO:0005835
Review for gene: MLH1 was set to GREEN
gene: MLH1 was marked as current diagnostic
Added comment: The Lynch syndrome variant Muir-Torre syndrome includes sebaceous neoplasms of the skin (including the face) as a main feature of the condition.
Sources: Expert list
Facial papules v0.37 FH Bryony Thompson Marked gene: FH as ready
Facial papules v0.37 FH Bryony Thompson Gene: fh has been classified as Green List (High Evidence).
Facial papules v0.37 FH Bryony Thompson Classified gene: FH as Green List (high evidence)
Facial papules v0.37 FH Bryony Thompson Gene: fh has been classified as Green List (High Evidence).
Facial papules v0.36 FH Bryony Thompson gene: FH was added
gene: FH was added to Facial papules. Sources: Expert list
Mode of inheritance for gene: FH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FH were set to 20301430
Phenotypes for gene: FH were set to Hereditary leiomyomatosis and renal cell cancer MONDO:0007888
Review for gene: FH was set to GREEN
gene: FH was marked as current diagnostic
Added comment: Cutaneous leiomyomata appear as skin-coloured to light-brown papules as a feature of FH tumour predisposition syndrome and can occasionally occur on the face.
Sources: Expert list
Facial papules v0.35 PTEN Bryony Thompson Marked gene: PTEN as ready
Facial papules v0.35 PTEN Bryony Thompson Gene: pten has been classified as Green List (High Evidence).
Facial papules v0.35 PTEN Bryony Thompson Classified gene: PTEN as Green List (high evidence)
Facial papules v0.35 PTEN Bryony Thompson Gene: pten has been classified as Green List (High Evidence).
Facial papules v0.34 PTEN Bryony Thompson gene: PTEN was added
gene: PTEN was added to Facial papules. Sources: Expert list
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTEN were set to 20301661
Phenotypes for gene: PTEN were set to PTEN hamartoma tumor syndrome MONDO:0017623
Review for gene: PTEN was set to GREEN
gene: PTEN was marked as current diagnostic
Added comment: Multiple facial papules (trichilemmomas) are a diagnostic feature of Cowden syndrome which is included in PTEN hamartoma tumor syndrome.
Sources: Expert list
Facial papules v0.33 APC Bryony Thompson Marked gene: APC as ready
Facial papules v0.33 APC Bryony Thompson Gene: apc has been classified as Green List (High Evidence).
Facial papules v0.33 APC Bryony Thompson Classified gene: APC as Green List (high evidence)
Facial papules v0.33 APC Bryony Thompson Gene: apc has been classified as Green List (High Evidence).
Facial papules v0.32 APC Bryony Thompson gene: APC was added
gene: APC was added to Facial papules. Sources: Expert list
Mode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APC were set to 20301519
Phenotypes for gene: APC were set to Classic or attenuated familial adenomatous polyposis MONDO:0021057
Review for gene: APC was set to GREEN
gene: APC was marked as current diagnostic
Added comment: Benign cutaneous lesions on the face including epidermoid cysts and fibromas are extra-intestinal features of FAP
Sources: Expert list
Facial papules v0.31 SUFU Bryony Thompson Marked gene: SUFU as ready
Facial papules v0.31 SUFU Bryony Thompson Gene: sufu has been classified as Green List (High Evidence).
Facial papules v0.31 SUFU Bryony Thompson Classified gene: SUFU as Green List (high evidence)
Facial papules v0.31 SUFU Bryony Thompson Gene: sufu has been classified as Green List (High Evidence).
Facial papules v0.30 SUFU Bryony Thompson gene: SUFU was added
gene: SUFU was added to Facial papules. Sources: Expert list
Mode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SUFU were set to 20301330
Phenotypes for gene: SUFU were set to nevoid basal cell carcinoma syndrome MONDO:0007187
Review for gene: SUFU was set to GREEN
gene: SUFU was marked as current diagnostic
Added comment: BCCs can present on the face and coarse facial features and facial milia can also be present but are milder than PTCH1-related NBCCS.
Sources: Expert list
Facial papules v0.29 PTCH1 Bryony Thompson Marked gene: PTCH1 as ready
Facial papules v0.29 PTCH1 Bryony Thompson Gene: ptch1 has been classified as Green List (High Evidence).
Facial papules v0.29 PTCH1 Bryony Thompson Classified gene: PTCH1 as Green List (high evidence)
Facial papules v0.29 PTCH1 Bryony Thompson Gene: ptch1 has been classified as Green List (High Evidence).
Facial papules v0.28 PTCH1 Bryony Thompson gene: PTCH1 was added
gene: PTCH1 was added to Facial papules. Sources: Expert list
Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTCH1 were set to 20301330
Phenotypes for gene: PTCH1 were set to nevoid basal cell carcinoma syndrome MONDO:0007187
Review for gene: PTCH1 was set to GREEN
gene: PTCH1 was marked as current diagnostic
Added comment: BCCs can present on the face and coarse facial features and facial milia are also present in ~60% of cases with a PTCH1 variant.
Sources: Expert list
Facial papules v0.27 HR Bryony Thompson Marked gene: HR as ready
Facial papules v0.27 HR Bryony Thompson Gene: hr has been classified as Green List (High Evidence).
Facial papules v0.27 HR Bryony Thompson Classified gene: HR as Green List (high evidence)
Facial papules v0.27 HR Bryony Thompson Gene: hr has been classified as Green List (High Evidence).
Facial papules v0.26 HR Bryony Thompson gene: HR was added
gene: HR was added to Facial papules. Sources: Literature
Mode of inheritance for gene: HR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HR were set to 12271294; 9856480; 10205263; 17869066
Phenotypes for gene: HR were set to atrichia with papular lesions MONDO:0008847
Review for gene: HR was set to GREEN
gene: HR was marked as current diagnostic
Added comment: Facial papules can be a feature of the condition.
Sources: Literature
Facial papules v0.25 NF1 Bryony Thompson Marked gene: NF1 as ready
Facial papules v0.25 NF1 Bryony Thompson Gene: nf1 has been classified as Green List (High Evidence).
Facial papules v0.25 NF1 Bryony Thompson Classified gene: NF1 as Green List (high evidence)
Facial papules v0.25 NF1 Bryony Thompson Gene: nf1 has been classified as Green List (High Evidence).
Facial papules v0.24 NF1 Bryony Thompson gene: NF1 was added
gene: NF1 was added to Facial papules. Sources: Literature
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NF1 were set to 23984232; 32298062; 34164111
Phenotypes for gene: NF1 were set to neurofibromatosis type 1 MONDO:0018975
Review for gene: NF1 was set to GREEN
gene: NF1 was marked as current diagnostic
Added comment: Facial papules and facial plexiform neurofibromatosis have been reported as a presenting feature of the condition.
Sources: Literature
Facial papules v0.23 Bryony Thompson Panel name changed from Facial papules and lesions to Facial papules
Facial papules v0.22 FLCN Bryony Thompson Marked gene: FLCN as ready
Facial papules v0.22 FLCN Bryony Thompson Gene: flcn has been classified as Green List (High Evidence).
Facial papules v0.22 FLCN Bryony Thompson Classified gene: FLCN as Green List (high evidence)
Facial papules v0.22 FLCN Bryony Thompson Gene: flcn has been classified as Green List (High Evidence).
Facial papules v0.21 FLCN Bryony Thompson gene: FLCN was added
gene: FLCN was added to Facial papules and lesions. Sources: Expert list
Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FLCN were set to 20301695
Phenotypes for gene: FLCN were set to Birt-Hogg-Dube syndrome MONDO:0007607
Review for gene: FLCN was set to GREEN
gene: FLCN was marked as current diagnostic
Added comment: Multiple facial papules (fibrofolliculomas) are a feature of the condition.
Sources: Expert list
Facial papules v0.20 CYLD Bryony Thompson Marked gene: CYLD as ready
Facial papules v0.20 CYLD Bryony Thompson Gene: cyld has been classified as Green List (High Evidence).
Facial papules v0.20 CYLD Bryony Thompson Classified gene: CYLD as Green List (high evidence)
Facial papules v0.20 CYLD Bryony Thompson Gene: cyld has been classified as Green List (High Evidence).
Facial papules v0.19 CYLD Bryony Thompson gene: CYLD was added
gene: CYLD was added to Facial papules and lesions. Sources: Expert list
Mode of inheritance for gene: CYLD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYLD were set to 32298062
Phenotypes for gene: CYLD were set to familial cylindromatosis MONDO:0007565
Review for gene: CYLD was set to GREEN
gene: CYLD was marked as current diagnostic
Added comment: Multiple facial papules are a feature of the condition.
Sources: Expert list
Facial papules v0.18 CDKN1B Bryony Thompson Marked gene: CDKN1B as ready
Facial papules v0.18 CDKN1B Bryony Thompson Gene: cdkn1b has been classified as Amber List (Moderate Evidence).
Facial papules v0.18 CDKN1B Bryony Thompson Classified gene: CDKN1B as Amber List (moderate evidence)
Facial papules v0.18 CDKN1B Bryony Thompson Added comment: Comment on list classification: Included as MEN1 differential diagnosis
Facial papules v0.18 CDKN1B Bryony Thompson Gene: cdkn1b has been classified as Amber List (Moderate Evidence).
Facial papules v0.17 CDKN1B Bryony Thompson Classified gene: CDKN1B as Amber List (moderate evidence)
Facial papules v0.17 CDKN1B Bryony Thompson Gene: cdkn1b has been classified as Amber List (Moderate Evidence).
Facial papules v0.16 CDKN1B Bryony Thompson gene: CDKN1B was added
gene: CDKN1B was added to Facial papules and lesions. Sources: Expert list
Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDKN1B were set to 20301710
Phenotypes for gene: CDKN1B were set to multiple endocrine neoplasia type 4 MONDO:0012552
Review for gene: CDKN1B was set to AMBER
Added comment: Overlapping phenotype with MEN1 with possible association with facial angiofibromas, but I couldn't find any evidence in the literature that these are present in individuals with MEN4.
Sources: Expert list
Facial papules v0.15 RET Bryony Thompson Marked gene: RET as ready
Facial papules v0.15 RET Bryony Thompson Gene: ret has been classified as Green List (High Evidence).
Facial papules v0.15 RET Bryony Thompson Classified gene: RET as Green List (high evidence)
Facial papules v0.15 RET Bryony Thompson Gene: ret has been classified as Green List (High Evidence).
Facial papules v0.14 RET Bryony Thompson gene: RET was added
gene: RET was added to Facial papules and lesions. Sources: Expert list
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RET were set to 20301434
Phenotypes for gene: RET were set to multiple endocrine neoplasia type 2B MONDO:0008082
Mode of pathogenicity for gene: RET was set to Other
Review for gene: RET was set to GREEN
gene: RET was marked as current diagnostic
Added comment: Distinctive facies including lip mucosal neuromas resulting in thick vermilion of the upper and lower lip, and mucosal neuromas of the lips and tongue are characteristic of MEN2B. Gain of function variants mainly involving codon 918 (~95%) cause the condition.
Sources: Expert list
Facial papules v0.13 MEN1 Bryony Thompson Marked gene: MEN1 as ready
Facial papules v0.13 MEN1 Bryony Thompson Gene: men1 has been classified as Green List (High Evidence).
Facial papules v0.13 MEN1 Bryony Thompson Classified gene: MEN1 as Green List (high evidence)
Facial papules v0.13 MEN1 Bryony Thompson Gene: men1 has been classified as Green List (High Evidence).
Facial papules v0.12 MEN1 Bryony Thompson gene: MEN1 was added
gene: MEN1 was added to Facial papules and lesions. Sources: Expert list
Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MEN1 were set to 20301710
Phenotypes for gene: MEN1 were set to multiple endocrine neoplasia type 1 MONDO:0007540
Review for gene: MEN1 was set to GREEN
gene: MEN1 was marked as current diagnostic
Added comment: Facial angiofibromas are a non-endocrine tumour that can be present in multiple endocrine neoplasia type 1.
Sources: Expert list
Facial papules v0.11 TSC2 Bryony Thompson Marked gene: TSC2 as ready
Facial papules v0.11 TSC2 Bryony Thompson Gene: tsc2 has been classified as Green List (High Evidence).
Facial papules v0.11 TSC2 Bryony Thompson Classified gene: TSC2 as Green List (high evidence)
Facial papules v0.11 TSC2 Bryony Thompson Gene: tsc2 has been classified as Green List (High Evidence).
Facial papules v0.10 TSC2 Bryony Thompson gene: TSC2 was added
gene: TSC2 was added to Facial papules and lesions. Sources: Expert list
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TSC2 were set to 20301399
Phenotypes for gene: TSC2 were set to tuberous sclerosis MONDO:0001734
Review for gene: TSC2 was set to GREEN
gene: TSC2 was marked as current diagnostic
Added comment: Facial angiofibromas are a characteristic feature of the tuberous sclerosis
Sources: Expert list
Facial papules v0.9 TSC1 Bryony Thompson Marked gene: TSC1 as ready
Facial papules v0.9 TSC1 Bryony Thompson Gene: tsc1 has been classified as Green List (High Evidence).
Facial papules v0.9 TSC1 Bryony Thompson Classified gene: TSC1 as Green List (high evidence)
Facial papules v0.9 TSC1 Bryony Thompson Gene: tsc1 has been classified as Green List (High Evidence).
Facial papules v0.8 TSC1 Bryony Thompson gene: TSC1 was added
gene: TSC1 was added to Facial papules and lesions. Sources: Expert list
Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TSC1 were set to 20301399
Phenotypes for gene: TSC1 were set to tuberous sclerosis MONDO:0001734
Review for gene: TSC1 was set to GREEN
gene: TSC1 was marked as current diagnostic
Added comment: Facial angiofibromas are a characteristic feature of the tuberous sclerosis
Sources: Expert list
Facial papules v0.7 Bryony Thompson Panel name changed from Facial papules to Facial papules and lesions
Facial papules v0.6 ECM1 Bryony Thompson Marked gene: ECM1 as ready
Facial papules v0.6 ECM1 Bryony Thompson Gene: ecm1 has been classified as Green List (High Evidence).
Facial papules v0.6 ECM1 Bryony Thompson Classified gene: ECM1 as Green List (high evidence)
Facial papules v0.6 ECM1 Bryony Thompson Gene: ecm1 has been classified as Green List (High Evidence).
Facial papules v0.5 ECM1 Bryony Thompson gene: ECM1 was added
gene: ECM1 was added to Facial papules. Sources: Expert list
Mode of inheritance for gene: ECM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ECM1 were set to 26803878
Phenotypes for gene: ECM1 were set to lipoid proteinosis MONDO:0009530
Review for gene: ECM1 was set to GREEN
gene: ECM1 was marked as current diagnostic
Added comment: One of the predominant features of lipoid proteinosis is multiple beaded papules along the eyelid margins and inner canthus known as moniliform blepharosis.
Sources: Expert list
Facial papules v0.4 ATP2A2 Bryony Thompson Marked gene: ATP2A2 as ready
Facial papules v0.4 ATP2A2 Bryony Thompson Gene: atp2a2 has been classified as Green List (High Evidence).
Facial papules v0.4 ATP2A2 Bryony Thompson Classified gene: ATP2A2 as Green List (high evidence)
Facial papules v0.4 ATP2A2 Bryony Thompson Gene: atp2a2 has been classified as Green List (High Evidence).
Facial papules v0.3 ATP2A2 Bryony Thompson gene: ATP2A2 was added
gene: ATP2A2 was added to Facial papules. Sources: Expert list
Mode of inheritance for gene: ATP2A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP2A2 were set to 10080178; 31911771
Phenotypes for gene: ATP2A2 were set to Darier disease MONDO:0007417
Review for gene: ATP2A2 was set to GREEN
gene: ATP2A2 was marked as current diagnostic
Added comment: Papules on the seborrheic areas of the head and neck are a predominant feature of Darier disease.
Sources: Expert list
Facial papules v0.2 ABCC6 Bryony Thompson Marked gene: ABCC6 as ready
Facial papules v0.2 ABCC6 Bryony Thompson Gene: abcc6 has been classified as Green List (High Evidence).
Facial papules v0.2 ABCC6 Bryony Thompson Classified gene: ABCC6 as Green List (high evidence)
Facial papules v0.2 ABCC6 Bryony Thompson Gene: abcc6 has been classified as Green List (High Evidence).
Facial papules v0.1 ABCC6 Bryony Thompson gene: ABCC6 was added
gene: ABCC6 was added to Facial papules. Sources: Expert list
Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCC6 were set to 20301292
Phenotypes for gene: ABCC6 were set to autosomal recessive inherited pseudoxanthoma elasticum MONDO:0009925
Review for gene: ABCC6 was set to GREEN
gene: ABCC6 was marked as current diagnostic
Added comment: The primary skin lesions present in pseudoxanthoma elasticum are papules that often develop on the lateral aspect of the neck.
Sources: Expert list
Facial papules v0.0 Bryony Thompson Added Panel Facial papules
Set list of related panels to Papule HP:0200034
Set panel types to: Royal Melbourne Hospital