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Facial papules (Version 1.0)

Level 2: Dermatological disorders

Relevant disorders: Papule HP:0200034
Panel types: Royal Melbourne Hospital, Rare Disease
Description
This panel contains genes associated with diseases where facial papules and lesions can be a predominant feature of the phenotype, including coarse facies. It was developed by Prof Ingrid Winship from Royal Melbourne Hospital for use in the Genodermatosis clinic.
Panel Activity

1 reviewer

  • Bryony Thompson (Royal Melbourne Hospital)

22 Entities

22 reviewed, 21 green

List Entity Reviews Mode of inheritance Details
22 Entitiess
Green List (high evidence)
ABCC6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • autosomal recessive inherited pseudoxanthoma elasticum MONDO:0009925
Tags
Green List (high evidence)
ANTXR2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • hyaline fibromatosis syndrome MONDO:0009229
Tags
Green List (high evidence)
APC
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Classic or attenuated familial adenomatous polyposis MONDO:0021057
Tags
Green List (high evidence)
ATP2A2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Darier disease MONDO:0007417
Tags
Green List (high evidence)
CYLD
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • familial cylindromatosis MONDO:0007565
Tags
Green List (high evidence)
ECM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • lipoid proteinosis MONDO:0009530
Tags
Green List (high evidence)
FH
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hereditary leiomyomatosis and renal cell cancer MONDO:0007888
Tags
Green List (high evidence)
FLCN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Birt-Hogg-Dube syndrome MONDO:0007607
Tags
Green List (high evidence)
HR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • atrichia with papular lesions MONDO:0008847
Tags
Green List (high evidence)
IDS
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mucopolysaccharidosis type 2 MONDO:0010674
Tags
Green List (high evidence)
IDUA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mucopolysaccharidosis type 1 MONDO:0001586
Tags
Green List (high evidence)
MEN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • multiple endocrine neoplasia type 1 MONDO:0007540
Tags
Green List (high evidence)
MLH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lynch syndrome MONDO:0005835
  • Muir-Torre syndrome MONDO:0008018
Tags
Green List (high evidence)
MSH2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lynch syndrome MONDO:0005835
  • Muir-Torre syndrome MONDO:0008018
Tags
Green List (high evidence)
NF1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • neurofibromatosis type 1 MONDO:0018975
Tags
Green List (high evidence)
PTCH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • nevoid basal cell carcinoma syndrome MONDO:0007187
Tags
Green List (high evidence)
PTEN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • PTEN hamartoma tumor syndrome MONDO:0017623
Tags
Green List (high evidence)
RET
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • multiple endocrine neoplasia type 2B MONDO:0008082
Tags
Green List (high evidence)
SUFU
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • nevoid basal cell carcinoma syndrome MONDO:0007187
Tags
Green List (high evidence)
TSC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • tuberous sclerosis MONDO:0001734
Tags
Green List (high evidence)
TSC2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • tuberous sclerosis MONDO:0001734
Tags
Amber List (moderate evidence)
CDKN1B
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • multiple endocrine neoplasia type 4 MONDO:0012552
Tags

Major version comments

  • 2023-06-19 23:26 Bryony Thompson (Royal Melbourne Hospital) promoted panel to 1.0
    All genes reviewed

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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