1. Panels
  2. Cancer Predisposition_Paediatric

Cancer Predisposition_Paediatric (Version 0.131)

Level 2: Cancer

Panel types: Victorian Clinical Genetics Services, Rare Disease
Description
This panel was developed and is maintained by VCGS.
Panel Activity

4 reviewers

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

  • Chern Lim (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

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

106 Entities

47 reviewed, 93 green

List Entity Reviews Mode of inheritance Details
106 Entitiess
Green List (high evidence)
ALK
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
APC
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ASXL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Bohring-Opitz syndrome , MIM#605039
  • Wilms tumour
Tags
Green List (high evidence)
ATM
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ATRX
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ATR-X-related syndrome MONDO:0016980
  • Osteosarcoma, mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomalies.
Tags
Green List (high evidence)
BLM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bloom Syndrome MIM# 210900
  • Short stature, dysmorphic facies
  • sun-sensitive
  • immunoglobulin deficiency (IgA, IgG, IgM)
  • erythema
  • marrow failure
  • leukaemia
  • lymphoma
  • chromosomal instability
  • predisposition to malignancies
Tags
Green List (high evidence)
BMPR1A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
BRAF
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
BRCA1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
BRCA2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
BRIP1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
BUB1B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mosaic variegated aneuploidy syndrome 1, MIM# 257300
Tags
Green List (high evidence)
CBL
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563
Tags
Green List (high evidence)
CDH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate, MIM# 137215
Tags
Green List (high evidence)
CDKN1C
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
CEBPA
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukemia, acute myeloid, MIM# 601626
Tags
Green List (high evidence)
CHEK2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Li-Fraumeni syndrome, MIM#609265
Tags
Green List (high evidence)
CTR9
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Familial Wilms tumour, MONDO:0006058, CTR9-related
Tags
Green List (high evidence)
DDB2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
DICER1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
DIS3L2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Perlman syndrome, MIM# 267000
Tags
Green List (high evidence)
ELP1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Paediatric medulloblastoma sonic hedgehog subtype
Tags
Green List (high evidence)
ERCC1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ERCC2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ERCC3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ERCC4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ERCC5
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
FANCA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group A, MIM# 227650
  • MONDO:0009215
Tags
Green List (high evidence)
FANCC
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
FANCD2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
FANCE
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
FANCF
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
FANCG
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
FANCI
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
FANCL
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
GATA2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Leukemia, acute myeloid, susceptibility to}, MIM# 601626
Tags
Green List (high evidence)
GPC3
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870
Tags
Green List (high evidence)
GPR161
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Predisposition to paediatric medulloblastoma
Tags
Green List (high evidence)
HRAS
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Costello syndrome, MIM# 218040
Tags
Green List (high evidence)
KDM3B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Diets-Jongmans syndrome, MIM# 618846
  • Cancer predisposition
Tags
Green List (high evidence)
KRAS
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
MAP2K1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
MAP2K2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
MAX
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Pheochromocytoma, susceptibility to}, MIM# 171300
Tags
Green List (high evidence)
MEN1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
MLH1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
MSH2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
MSH6
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
NBN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nijmegen breakage syndrome, MIM# 251260
  • MONDO:0009623
Tags
Green List (high evidence)
NF1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
NF2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
NHP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 2, MIM# 613987
Tags
Green List (high evidence)
NRAS
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PALB2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PAX5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Leukemia, acute lymphoblastic, susceptibility to, 3}, MIM# 615545
Tags
Green List (high evidence)
PHOX2B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PIK3CA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM# 602501
Tags
  • somatic
Green List (high evidence)
PMS2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PRKAR1A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PTCH1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PTEN
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PTPN11
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
RAF1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
RB1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
RECQL4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
REST
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • {Wilms tumor 6, susceptibility to}, MIM# 616806
Tags
Green List (high evidence)
RET
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
RUNX1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukemia, acute myeloid, MIM# 601626
Tags
Green List (high evidence)
SDHA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Paragangliomas 5, MIM# 614165
Tags
Green List (high evidence)
SDHAF2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Paragangliomas 2, MIM# 601650
Tags
Green List (high evidence)
SDHB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Paragangliomas 4, MIM# 115310
Tags
Green List (high evidence)
SDHC
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Paragangliomas 3, MIM# 605373
Tags
Green List (high evidence)
SDHD
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Paragangliomas 1, with or without deafness, MIM# 168000
  • Pheochromocytoma, MIM# 171300
Tags
Green List (high evidence)
SH2B3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Predisposition to haematological malignancies
Tags
Green List (high evidence)
SHOC2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SMAD4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SMARCA4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SMARCB1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SOS1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
STK11
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SUFU
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
TERT
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
TP53
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
TRIM28
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Wilms tumour, MONDO:0006058, TRIM28-related
Tags
Green List (high evidence)
TRIM37
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Mulibrey nanism, MIM# 253250
Tags
Green List (high evidence)
TRIP13
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mosaic variegated aneuploidy syndrome 3, MIM# 617598
Tags
  • founder
Green List (high evidence)
TSC1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
TSC2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
VHL
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
WRN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Werner syndrome, MIM# 277700
  • MONDO:0010196
Tags
Green List (high evidence)
WT1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
XPA
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
XPC
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Amber List (moderate evidence)
FBXW7
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Wilms tumour, hereditary, MONDO:0003321, FBXW7-related
Tags
Amber List (moderate evidence)
FH
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Leiomyomatosis and renal cell cancer, MIM# 150800
Tags
Amber List (moderate evidence)
NYNRIN
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Wilms tumour predisposition
Tags
Red List (low evidence)
BAP1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Tumor predisposition syndrome, MIM# 614327
Tags
Red List (low evidence)
CDC73
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Parathyroid carcinoma, MIM# 608266
Tags
Red List (low evidence)
CDK4
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • {Melanoma, cutaneous malignant, 3}, MIM# 609048
Tags
Red List (low evidence)
CDKN2A
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Familial Malignant Melanoma and Tumors of the Nervous system
  • Familial Uveal Melanoma
  • Pancreatic cancer
Tags
Red List (low evidence)
EPCAM
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 8, MIM# 613244
Tags
Red List (low evidence)
FANCM
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia
Tags
  • refuted
Red List (low evidence)
MUTYH
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Adenomas, multiple colorectal, MIM# 608456
Tags
Red List (low evidence)
NOP10
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 1, MIM#224230
Tags
Red List (low evidence)
RAD51C
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group O, MIM# 613390
Tags
Red List (low evidence)
TMEM127
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • {Pheochromocytoma, susceptibility to}, MIM# 171300
Tags

Downloads

Download lists

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

Download Version