Description
This is a set of genes with strong clinical evidence conferring susceptibility of clinically-relevant penetrance to the respective tumour type, as reviewed and submitted by Clare Turnbull (Queen Mary University). 

Indications:

(1)    Childhood plus (ie with intellectual disability, growth abN, congenital malformation or other syndromic features) as part of the Rare Disease programme of the 100,000 Genomes Project. 

(2)    Childhood tumours not otherwise covered by a more specific panel (for example sarcoma), as part of pertinent germline findings for the cancer programme of the 100,000 Genomes Project.

Genes associated with adult onset cancer phenotypes are not included, as it is not standard practice to report susceptibility to adult onset disorders in childhood.  Application of the adult solid tumours panel can be considered in specific circumstances if this will influence management.

3 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Clare Turnbull (Queen Mary University London)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

71 genes

71 reviewed, 68 green

List Gene Reviews Mode of inheritance Details
71 genes
Green Green List (high evidence)
ALK
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Familial neuroblastoma
Green Green List (high evidence)
APC
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Familial Adenomatous Polyposis
Green Green List (high evidence)
ATM
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ataxia Telangiectasia
Green Green List (high evidence)
BLM
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bloom Syndrome
Green Green List (high evidence)
BMPR1A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hereditary Mixed Polyposis Syndrome
Green Green List (high evidence)
BRAF
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cardiofaciocutaneous syndrome
Green Green List (high evidence)
BRCA1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hereditary Breast and Ovarian Cancer
Green Green List (high evidence)
BRCA2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hereditary Breast and Ovarian Cancer
Green Green List (high evidence)
BRIP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Fanconi anemia, complementation group J 609054
Green Green List (high evidence)
CBL
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Noonan syndrome
  • CBL associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies
Green Green List (high evidence)
CDKN1C
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Beckwith-Wiedemann syndrome
Green Green List (high evidence)
DDB2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Xeroderma Pigmentosa
Green Green List (high evidence)
DICER1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • DICER1 syndrome
  • Familial Multinodular Goiter
Green Green List (high evidence)
ERCC1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Xeroderma Pigmentosa
Green Green List (high evidence)
ERCC2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Xeroderma Pigmentosa
Green Green List (high evidence)
ERCC3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Xeroderma Pigmentosa
Green Green List (high evidence)
ERCC4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Xeroderma Pigmentosa
Green Green List (high evidence)
ERCC5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Xeroderma Pigmentosa
Green Green List (high evidence)
FANCA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Fanconi Anemia
Green Green List (high evidence)
FANCC
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Fanconi Anemia
Green Green List (high evidence)
FANCD2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Fanconi Anemia
Green Green List (high evidence)
FANCE
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Fanconi Anemia
Green Green List (high evidence)
FANCF
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Fanconi Anemia
Green Green List (high evidence)
FANCG
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Fanconi Anemia
Green Green List (high evidence)
FANCI
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Fanconi Anemia
Green Green List (high evidence)
FANCL
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Fanconi Anemia
Green Green List (high evidence)
HRAS
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Costello syndrome
Green Green List (high evidence)
KRAS
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Noonan syndrome
Green Green List (high evidence)
MAP2K1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cardiofaciocutaneous syndrome
Green Green List (high evidence)
MAP2K2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cardiofaciocutaneous syndrome
Green Green List (high evidence)
MEN1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Multiple Endocrine Neoplasia
Green Green List (high evidence)
MLH1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lynch Syndrome
  • CMMRD
Green Green List (high evidence)
MSH2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Lynch Syndrome
  • CMMRD
Green Green List (high evidence)
MSH6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Lynch Syndrome
  • CMMRD
Green Green List (high evidence)
NBN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Nijmegen Breakage Syndrome
Green Green List (high evidence)
NF1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Neurofibromatosis
Green Green List (high evidence)
NF2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Acoustic neuroma
Green Green List (high evidence)
NHP2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dyskeratosis Congenita
Green Green List (high evidence)
NOP10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dyskeratosis Congenita
Green Green List (high evidence)
NRAS
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Noonan syndrome
Green Green List (high evidence)
PALB2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Fanconi Anemia
Green Green List (high evidence)
PAX5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Familial Clustering of Acute Lymphoblastic Leukemia
Green Green List (high evidence)
PHOX2B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Familial Clustering of Neuroblastoma
Green Green List (high evidence)
PMS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lynch Syndrome
  • CMMRD
Green Green List (high evidence)
PRKAR1A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Carney Complex
  • Familial Primary Pigmented Nodular Adrenocortical disease
Green Green List (high evidence)
PTCH1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Gorlin syndrome
Green Green List (high evidence)
PTEN
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cowden syndrome
Green Green List (high evidence)
PTPN11
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Noonan syndrome
Green Green List (high evidence)
RAF1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Noonan syndrome
Green Green List (high evidence)
RB1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Retinoblastoma
Green Green List (high evidence)
RECQL4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Rothmund Thomson Syndrome
Green Green List (high evidence)
RET
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Multiple Endocrine Neoplasia
Green Green List (high evidence)
SHOC2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Noonan syndrome
Green Green List (high evidence)
SMAD4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hereditary Hemorrhagic Telangiectasia
  • Juvenile Polyposis
Green Green List (high evidence)
SMARCA4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • predisposition to small cell ca
  • Ovary with hypercalcemia
Green Green List (high evidence)
SMARCB1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Atypical rhabdoid tumor predisposition
Green Green List (high evidence)
SOS1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Noonan syndrome
Green Green List (high evidence)
STK11
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Peutz Jeghers syndrome
Green Green List (high evidence)
SUFU
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • SUFU associated Medulloblastoma
Green Green List (high evidence)
TERT
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dynkeratosis Congenita
Green Green List (high evidence)
TP53
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Li Fraumeni Syndrome
Green Green List (high evidence)
TSC1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Tuberous sclerosis type 1
Green Green List (high evidence)
TSC2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Tuberous sclerosis type 2
Green Green List (high evidence)
VHL
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Familial Paraganglioma and Pheochromocytoma
Green Green List (high evidence)
WRN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Werner Syndrome
Green Green List (high evidence)
WT1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Familial Wilms tumor
Green Green List (high evidence)
XPA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Xeroderma Pigmentosa
Green Green List (high evidence)
XPC
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Xeroderma Pigmentosa
Amber Amber List (moderate evidence)
FANCM
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Fanconi Anemia
Tags
  • drug-toxicity
Amber Amber List (moderate evidence)
RAD51C
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Fanconi Anemia
Tags
  • watchlist
No list No list
SH2B3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Expert list
Phenotypes
  • Susceptibility to ALL

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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