Description
This is a Wilms tumour predisposition panel, with thanks to Dr Chris Richmond.

5 reviewers

  • Nicola Poplawski (South Australian Clinical Genetics Service)

  • Chris Richmond (Genetic Health Queensland)

  • Laura Raiti (Royal Children's Hospital, Melbourne)

  • Manny Jacobs (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

21 Entities

14 reviewed, 16 green

List Entity Reviews Mode of inheritance Details
21 Entitiess
Green Green List (high evidence)
ASXL1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Bohring-Opitz syndrome , MIM#605039
Tags
Green Green List (high evidence)
BLM
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
BRCA2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
BUB1B
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CDKN1C
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CTR9
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Familial Wilms tumour, MONDO:0006058, CTR9-related
Tags
Green Green List (high evidence)
DICER1
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
DIS3L2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Wilms tumour, MONDO:0006058, DIS3L2-related
Tags
Green Green List (high evidence)
GPC3
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870
Tags
Green Green List (high evidence)
PALB2
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PIK3CA
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM# 602501
Tags
  • somatic
Green Green List (high evidence)
REST
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Wilms tumor 6, susceptibility to}, MIM# 616806
Tags
Green Green List (high evidence)
TP53
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TRIM28
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Wilms tumour, MONDO:0006058, TRIM28-related
Tags
Green Green List (high evidence)
TRIM37
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mulibrey nanism, MIM# 253250
Tags
Green Green List (high evidence)
WT1
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Amber Amber List (moderate evidence)
CDC73
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperparathyroidism-jaw tumor syndrome, MIM# 145001
Tags
Amber Amber List (moderate evidence)
FBXW7
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Wilms tumour, hereditary, MONDO:0003321, FBXW7-related
Tags
Amber Amber List (moderate evidence)
NYNRIN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Wilms tumour predisposition
Tags
Red Red List (low evidence)
CTCF
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • autosomal dominant intellectual developmental disorder 21, MONDO:0014213 (MIM# 615502)
Tags
Red Red List (low evidence)
GPC4
1 review
1 red
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags

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