The latest signed off version for the GMS is v4.0. The current version, shown here, may differ from the signed-off version.

Childhood solid tumours (Version 4.9)

Level 3: Childhood Tumours
Level 2: Tumour syndromes

Relevant disorders: Paediatric congenital malformation-dysmorphism-tumour syndrome, Paediatric congenital malformation-dysmorphism-tumour syndromes, Paediatric congenital malformation-dysmorphism-tumour sydromes, Paediatric congenital malformation-dysmorphism-tumour syndrome, Tumour predisposition - childhood onset, R359
Panel types: Rare Disease 100K, GMS Rare Disease, GMS Cancer Germline Virtual, GMS signed-off
Latest signed off version: v4.0 (22 Mar 2023)
Previously signed off versions: v3.0, v2.5
Previous code: 55af539322c1fc78a9ef5052

Description

This panel is used for clinical indications in the NHS Genomic Medicine Service. It is also used for participants in the Cancer programme of the 100,000 Genomes Project.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R359 Childhood solid tumours', and in the 'National Genomic Test Directory for cancer' document at: https://www.england.nhs.uk/publication/national-genomic-test-directories/.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

Application of panels for WGS germline cancer susceptibility findings in the Genomic Medicine Service:
-This panel will be applied to all individuals age <18 years with solid (non-haematological) tumours.
-Three broad panels spanning cancer susceptibility genes will also be applied for Tier 3 findings. These are:
Childhood solid tumours:
https://panelapp.genomicsengland.co.uk/panels/243/
Adult solid tumours cancer susceptibility: https://panelapp.genomicsengland.co.uk/panels/245/
Haematological malignancies cancer susceptibility: https://panelapp.genomicsengland.co.uk/panels/59/

Notes relating to application of this panel for germline findings for WGS:
-Only genes with strong evidence of association with cancer are included as Green on this panel for genetically heterogeneous conditions such as Fanconi anaemia (FA), Dyskeratosis congenita (DC), RASopathies and Xeroderma pigmentosum (XP).
-This panel has been designed for detection of variants in genes that typically present in childhood. Nevertheless, some genes associated with predisposition to cancers of childhood onset will also cause predisposition tumours with onset in adulthood.

Indications for application of clinical indication 'R359 Childhood solid tumours' in the Genomic Medicine Service:
-Analysis of germline findings for WGS for tumours arising in individuals age <25 years.

General Information:

-The National Genomic Test Directory for Cancer has been developed under the guidance of NHS England's Cancer experts.

-Please contact your Genomic Laboratory Hub for information regarding specific queries. More information about Genomic Laboratory Hubs can be found here: https://www.england.nhs.uk/genomics/genomic-laboratory-hubs/

-This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

Panel Activity

16 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Eik Haraldsdottir (Genomics England)

Group: other
Workplace: other
Richard Scott (North Thames GMC/UCL)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Richard Scott (Genomics England Curator)

Group: Other
Workplace: Other
Ellen Thomas (Genomics England Curator)

Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Anna de Burca (Genomics England Curator)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Lara Hawkes (Genomics England)

Group: Other NHS organisation
Workplace: NHS clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Shazia Mahamdallie (Great Ormond Street)

Group: NHS Genomic Medicine Centre
Workplace: Research lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other

120 Entities

114 reviewed, 83 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 120 Entitiess
Green Green List (high evidence)	ALK	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Expert List Expert Review Green NHS GMS Phenotypes bilateral neuroblastoma {Neuroblastoma, susceptibility to, 3} Familial neuroblastoma Tags
Green Green List (high evidence)	APC	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert List Expert Review Green NHS GMS Phenotypes Familial Adenomatous Polyposis 175100 Tags
Green Green List (high evidence)	ATM	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert List Expert Review Green NHS GMS Phenotypes Ataxia-telangiectasia, OMIM:208900 Tags
Green Green List (high evidence)	BLM	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert List Expert Review Green NHS GMS Phenotypes Bloom syndrome, OMIM:210900 Tags
Green Green List (high evidence)	BMPR1A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert List Expert Review Green NHS GMS Phenotypes Polyposis, juvenile intestinal, 174900 Hereditary Mixed Polyposis Syndrome 2, 610069 Hereditary Mixed Polyposis Syndrome Tags
Green Green List (high evidence)	BRCA1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert List Expert Review Green NHS GMS Phenotypes {Breast-ovarian cancer, familial, 1}, OMIM:604370 Tags
Green Green List (high evidence)	BRCA2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert List Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi anemia, complementation group D1, OMIM:605724 Wilms tumor, OMIM:194070 {Glioblastoma 3}, OMIM:613029 {Medulloblastoma}, OMIM:155255 Tags
Green Green List (high evidence)	BRIP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert List Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi anemia, complementation group J, OMIM:609054 Tags
Green Green List (high evidence)	BUB1B	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert List Expert Review Green NHS GMS Phenotypes Mosaic variegated aneuploidy syndrome 1 257300 257300 Tags
Green Green List (high evidence)	CBL	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert List Expert Review Green NHS GMS Phenotypes 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 Tags
Green Green List (high evidence)	CDC73	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes 145001 Tags
Green Green List (high evidence)	CDKN1C	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Emory Genetics Laboratory Expert List Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Beckwith-Wiedemann syndrome, OMIM:130650 Tags
Green Green List (high evidence)	CTR9	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Familial Wilms tumor Tags gene-checked
Green Green List (high evidence)	DDB2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert List Expert Review Green NHS GMS Phenotypes Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 Tags
Green Green List (high evidence)	DICER1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert List Expert Review Green NHS GMS Phenotypes Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, OMIM:138800 Pleuropulmonary blastoma, OMIM:601200 Pleuropulmonary blastoma, MONDO:0011014 Rhabdomyosarcoma, embryonal, 2, OMIM:180295 Embryonal rhabdomyosarcoma (disease), MONDO:0009993 DICER1 syndrome GLOW syndrome Global developmental delay, lung cysts, overgrowth, and wilms tumor, MONDO:0032647 Tags
Green Green List (high evidence)	DIS3L2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert List Expert Review Green NHS GMS Phenotypes Perlman syndrome, 267000 Tags
Green Green List (high evidence)	ELP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Medulloblastoma, OMIM:155255 Tags
Green Green List (high evidence)	ERCC2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert List Expert Review Green NHS GMS Phenotypes Xeroderma pigmentosum, group D, 278730 Tags
Green Green List (high evidence)	ERCC3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert List Expert Review Green NHS GMS Phenotypes Xeroderma pigmentosum, group B, 610651 Tags
Green Green List (high evidence)	ERCC4	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert List Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Fanconi anemia, complementation group Q, 615272 Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 Fanconi anemia, complementation group Q, 615272 XFE progeroid syndrome, 610965 Xeroderma pigmentosum, group F, 278760 Tags
Green Green List (high evidence)	ERCC5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert List Expert Review Green NHS GMS Phenotypes Xeroderma pigmentosum, group G, 278780 Tags
Green Green List (high evidence)	EZH2	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert List Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Weaver syndrome, 277590 Weaver Syndrome Tags
Green Green List (high evidence)	FANCA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert List Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi anemia, complementation group A, 227650 Fanconi Anemia, Complementation Group A Fanconi Anemia Tags
Green Green List (high evidence)	FANCB	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert List Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi Anemia, Complementation Group C Fanconi Anemia Type B Fanconi Anemia, X-Linked Fanconi anemia, complementation group B, 300514 Tags
Green Green List (high evidence)	FANCC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert List Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi anemia, complementation group C, 227645 Fanconi Anaemia Fanconi Anemia Tags
Green Green List (high evidence)	FANCD2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert List Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi anemia, complementation group D2, 227646 Fanconi Anaemia Fanconi Anemia Tags
Green Green List (high evidence)	FANCE	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert List Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi anemia, complementation group E, 600901 Fanconi Anaemia Fanconi Anemia Tags
Green Green List (high evidence)	FANCF	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert List Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi anemia, complementation group F, 603467 Fanconi Anaemia Fanconi Anemia Tags
Green Green List (high evidence)	FANCG	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert List Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi anemia, complementation group G, 614082 Fanconi Anaemia Fanconi Anemia Tags
Green Green List (high evidence)	FANCI	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert List Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi Anaemia Fanconi Anemia Fanconi anemia, complementation group I, 609053 Tags
Green Green List (high evidence)	FANCL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert List Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi anemia, complementation group L, 614083 Fanconi Anaemia Fanconi Anemia Tags
Green Green List (high evidence)	GPC3	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert List Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Wilms tumor, somatic, 194070 Simpson-Golabi-Behmel syndrome, type 1, 312870 Wilms tumor, somatic, 194070 Tags
Green Green List (high evidence)	GPR161	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes {Medulloblastoma predisposition syndrome}, OMIM:155255 Tags
Green Green List (high evidence)	HRAS	6 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert List Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Costello syndrome Costello syndrome, 218040 Tags
Green Green List (high evidence)	11p13 (WAGR syndrome) region Loss ISCA-37401-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome 194072 Tags
Green Green List (high evidence)	KRAS	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert List Expert Review Green NHS GMS Phenotypes Noonan syndrome 3 609942 Cardiofaciocutaneous syndrome 2 615278 Tags
Green Green List (high evidence)	MAX	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes {Pheochromocytoma, susceptibility to}, OMIM:171300 Tags
Green Green List (high evidence)	MEN1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert List Expert Review Green NHS GMS Phenotypes Multiple Endocrine Neoplasia Multiple endocrine neoplasia 1, 131100 Tags
Green Green List (high evidence)	MLH1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert List Expert Review Green NHS GMS Phenotypes CMMRD 276300 Lynch Syndrome Tags
Green Green List (high evidence)	MSH2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert List Expert Review Green NHS GMS Phenotypes CMMRD 276300 Lynch Syndrome Tags
Green Green List (high evidence)	MSH6	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert List Expert Review Green NHS GMS Phenotypes CMMRD 276300 Lynch Syndrome Tags
Green Green List (high evidence)	NBN	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert List Expert Review Green NHS GMS Phenotypes Nijmegen Breakage Syndrome 251260 Tags
Green Green List (high evidence)	NF1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert List Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Neurofibromatosis-Noonan syndrome, 601321 Leukemia, juvenile myelomonocytic, 607785 Neurofibromatosis, Type I Neurofibromatosis-Noonan syndrome 601321 Watson syndrome, 193520 Neurofibromatosis, type 1, 162200 Neurofibromatosis, familial spinal, 162210 Neurofibromatosis, Type 1 Melanoma, desmoplastic neurotrophic (2) Neurofibromatosis, type 1 162200 Tags
Green Green List (high evidence)	NF2	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert List Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Meningioma, NF2-related, somatic, 607174 Schwannomatosis, 162091 Neurofibromatosis, Type 2 Neurofibromatosis, Type II loss of heterozygosity Neurofibromatosis, type 2, 101000 Acoustic neuroma Tags
Green Green List (high evidence)	NSD1	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert List Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Leukemia, acute myeloid, 601626 (1) Beckwith-Wiedemann syndrome, 130650 Sotos Syndrome Weaver Syndrome Sotos syndrome 1, 117550 Tags
Green Green List (high evidence)	PALB2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert List Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi Anaemia Fanconi anemia, complementation group N, 610832 {Pancreatic cancer, susceptibility to, 3}, 613348 Fanconi Anemia {Breast cancer, susceptibility to}, 114480 Tags
Green Green List (high evidence)	PDGFRA	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert List Expert Review Green NHS GMS Phenotypes Familial Gastrointestinal stromal tumour Gastrointestinal stromal tumor, somatic 606764 Familial GIST Gastrointestinal stromal tumor, somatic, 606764 Tags
Green Green List (high evidence)	PDGFRB	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Infantile myofibromatosis Myofibromatosis, infantile, 1 228550 Myofibromatosis, infantile, 1 228550 Tags
Green Green List (high evidence)	PHOX2B	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Expert List Expert Review Green NHS GMS Other Phenotypes Familial Clustering of Neuroblastoma Tags
Green Green List (high evidence)	PMS2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert List Expert Review Green NHS GMS Phenotypes CMMRD 276300 Lynch Syndrome Tags
Green Green List (high evidence)	POLH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Xeroderma pigmentosum, variant type, OMIM:278750 Tags
Green Green List (high evidence)	PRKAR1A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert List Expert Review Green NHS GMS Phenotypes Familial Primary Pigmented Nodular Adrenocortical disease Carney Complex Tags
Green Green List (high evidence)	PTCH1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert List Expert Review Green NHS GMS Phenotypes Basal cell nevus syndrome 1, OMIM:109400 Gorlin syndrome Tags
Green Green List (high evidence)	PTEN	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert List Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes {Glioma susceptibility 2}, 613028 Macrocephaly/autism syndrome, 605309 VATER association with macrocephaly and ventriculomegaly, 76950 {Prostate cancer, somatic}, 176807 {Meningioma}, 607174 Squamous cell carcinoma, head and neck, somatic, 275355 Prostate cancer, somatic}, 176807 Cowden Disease Bannayan-Riley-Ruvalcaba syndrome, 153480 Malignant melanoma, somatic, 155600 Cowden syndrome 1, 158350 Endometrial carcinoma, somatic, 608089 Cowden Syndrome Thyroid carcinoma, follicular, somatic, 188470 Cowden syndrome Lhermitte-Duclos syndrome, 158350 PTEN hamartoma tumor syndrome VATER association with macrocephaly and ventriculomegaly, 276950 Tags
Green Green List (high evidence)	PTPN11	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert List Expert Review Green NHS GMS Phenotypes Noonan syndrome 163950 Tags
Green Green List (high evidence)	RAF1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert List Expert Review Green NHS GMS Phenotypes LEOPARD syndrome 2 611554 Noonan syndrome 5 611553 Tags
Green Green List (high evidence)	RB1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Expert List Expert Review Green NHS GMS Phenotypes Retinoblastoma, trilateral Retinoblastoma Tags
Green Green List (high evidence)	RECQL4	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert List Expert Review Green NHS GMS Phenotypes Rothmund Thomson Syndrome 268400 Tags
Green Green List (high evidence)	REST	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert List Expert Review Green NHS GMS Phenotypes 616806 {Wilms tumor 6, susceptibility to} 616806 Tags
Green Green List (high evidence)	RET	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert List Expert Review Green NHS GMS Phenotypes Multiple Endocrine Neoplasia MEN2B 162300 Tags
Green Green List (high evidence)	RTEL1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Dyskeratosis congenita, autosomal recessive 5 615190 615190 DC type 4 and 5 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related Dyskeratosis congenita, autosomal dominant 4, 615190 Dyskeratosis congenita, autosomal recessive 5, 615190 615190 Dyskeratosis congenita 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 Tags
Green Green List (high evidence)	SHOC2	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert List Expert Review Green NHS GMS Phenotypes Noonan-like syndrome with loose anagen hair Tags
Green Green List (high evidence)	SLX4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert List Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi Anaemia Fanconi anemia, complementation group P, 613951 Fanconi Anemia Tags
Green Green List (high evidence)	SMAD4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert List Expert Review Green NHS GMS Phenotypes Polyposis, juvenile intestinal, 174900 Juvenile Polyposis Hereditary Hemorrhagic Telangiectasia Tags
Green Green List (high evidence)	SMARCA4	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert List Expert Review Green NHS GMS Phenotypes {Rhabdoid tumor predisposition syndrome 2}, OMIM:613325 Rhabdoid tumor predisposition syndrome 2, MONDO:0013224 Tags
Green Green List (high evidence)	SMARCB1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert List Expert Review Green NHS GMS Phenotypes Atypical rhabdoid tumor predisposition 609322 Tags
Green Green List (high evidence)	SOS1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert List Expert Review Green NHS GMS Phenotypes Noonan syndrome 4 610733 Tags
Green Green List (high evidence)	STK11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert List Expert Review Green NHS GMS Phenotypes Peutz Jeghers syndrome Peutz-Jeghers syndrome, 175200 Tags
Green Green List (high evidence)	SUFU	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert List Expert Review Green NHS GMS Phenotypes Basal cell nevus syndrome, OMIM:109400 {Medulloblastoma}, OMIM:155255 {Meningioma, familial, susceptibility to}, OMIM:607174 Tags
Green Green List (high evidence)	TERC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Dyskeratosis congenita, autosomal dominant 1, 127550 Tags
Green Green List (high evidence)	TERT	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert List Expert Review Green NHS GMS Phenotypes Dyskeratosis congenita, autosomal dominant 2, OMIM:613989 Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742 {Leukemia, acute myeloid}, OMIM:601626 {Melanoma, cutaneous malignant, 9}, OMIM:615134 Tags
Green Green List (high evidence)	TP53	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Expert List Expert Review Green NHS GMS Phenotypes Adrenocortical carcinoma Li Fraumeni Syndrome Tags
Green Green List (high evidence)	TRIM28	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Familial Wilms tumor Wilms tumour Tags gene-checked
Green Green List (high evidence)	TRIM37	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert List Expert Review Green NHS GMS Phenotypes Mulibrey nanism 253250 253250 Tags
Green Green List (high evidence)	TRIP13	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert List Expert Review Green Literature NHS GMS Phenotypes Mosaic variegated aneuploidy syndrome 3 617598 Mosaic variegated aneuploidy syndrome 3 617598 Tags
Green Green List (high evidence)	TSC1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert List Expert Review Green NHS GMS Phenotypes 191100 Tuberous sclerosis type 1 Tags
Green Green List (high evidence)	TSC2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert List Expert Review Green NHS GMS Phenotypes 613254 Tuberous sclerosis type 2 Tags
Green Green List (high evidence)	VHL	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert List Expert Review Green NHS GMS Phenotypes von Hippel-Lindau syndrome, 193300 Familial Paraganglioma and Pheochromocytoma Tags
Green Green List (high evidence)	WRAP53	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Dyskeratosis congenita, autosomal recessive 3, 613988 Tags
Green Green List (high evidence)	WRN	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert List Expert Review Green NHS GMS Phenotypes Werner Syndrome Werner syndrome, 277700 Tags
Green Green List (high evidence)	WT1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert List Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Wagner Syndrome Frasier syndrome, 136680 Nephrotic syndrome, type 4, 256370 Denys-Drash syndrome, 194080 Familial Wilms tumor Wilms Tumor 1 Wilms Tumor Wilms tumour Meacham syndrome, 608978 Mesothelioma, somatic, 156240 Denys-Drash Syndrome Wilms tumor, type 1, 194070 Tags
Green Green List (high evidence)	XPA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert List Expert Review Green NHS GMS Phenotypes Xeroderma pigmentosum, group A, 278700 Tags
Green Green List (high evidence)	XPC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert List Expert Review Green NHS GMS Phenotypes Xeroderma pigmentosum, group C, 278720 Tags
Amber Amber List (moderate evidence)	ACD	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Dyskeratosis congenita, autosomal dominant 6, OMIM:616553 Dyskeratosis congenita, autosomal recessive 7, OMIM:616553 Tags
Amber Amber List (moderate evidence)	BRAF	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert List Expert Review Amber NHS GMS Phenotypes Noonan syndrome 7 613706 Cardiofaciocutaneous syndrome 115150 LEOPARD syndrome 3 613707 Tags
Amber Amber List (moderate evidence)	CTC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Dyskeratosis congenita Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita Inherited Bone Marrow Failure Syndromes Dyskeratosis Congenita, Recessive 612199 Coats plus syndrome Tags
Amber Amber List (moderate evidence)	DKC1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber NHS GMS Phenotypes Dyskeratosis congenita, autosomal recessive 6, 616353 Tags
Amber Amber List (moderate evidence)	ERCC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert List Expert Review Amber NHS GMS Phenotypes Xeroderma Pigmentosa Cerebrooculofacioskeletal syndrome 4, 610758 Tags
Amber Amber List (moderate evidence)	FBXW7	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Wilms tumor, MONDO:0006058 Rhabdoid tumor, MONDO:0002728 Tags watchlist
Amber Amber List (moderate evidence)	LZTR1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Noonan syndrome 10 616564 Schwannomatosis-2, susceptibility to 615670 Tags
Amber Amber List (moderate evidence)	MAP2K1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert List Expert Review Amber NHS GMS Phenotypes Cardiofaciocutaneous Syndrome Cardio-Facio-Cutaneous syndrome CFC syndrome LEOPARD syndrome Cardiofaciocutaneous syndrome 3 ?Noonan syndrome Tags
Amber Amber List (moderate evidence)	MAP2K2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert List Expert Review Amber NHS GMS Phenotypes Cardiofaciocutaneous syndrome 4 615280 Tags
Amber Amber List (moderate evidence)	NOP10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert List Expert Review Amber NHS GMS Phenotypes Dyskeratosis congenita, autosomal recessive 1, 224230 Tags
Amber Amber List (moderate evidence)	NYNRIN	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Wilms tumour Tags
Amber Amber List (moderate evidence)	PARN	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Dyskeratosis congenita, autosomal recessive 6, OMIM:616353 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371 Tags
Amber Amber List (moderate evidence)	PPP1CB	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Phenotypes Rasopathy with developmental delay, short stature and sparse slow-growing hair Noonan syndrome-like disorder with loose anagen hair 2, 617506 Tags
Amber Amber List (moderate evidence)	RAD51C	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert List Expert Review Amber Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes {Breast-ovarian cancer, familial, susceptibility to, 3}, 613399 Fanconi anemia, complementation group O, 613390 Fanconi Anaemia Fanconi Anemia Tags watchlist
Amber Amber List (moderate evidence)	RIT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Phenotypes Noonan syndrome 8 615355 Tags
Amber Amber List (moderate evidence)	SOS2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Phenotypes Noonan syndrome 9 616559 Tags
Amber Amber List (moderate evidence)	TINF2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Phenotypes Dyskeratosis congenita, autosomal dominant 3, 613990 Tags
Red Red List (low evidence)	AKT1	1 review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes IGH Breast cancer, somatic, 114480 Colorectal cancer, somatic, 114500 Ovarian cancer, somatic, 167000 {Schizophrenia, susceptibility to}, 181500 (2) Proteus syndrome, somatic, 176920 Cowden syndrome 6, 615109 Tags
Red Red List (low evidence)	FANCM	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi anemia, complementation group M, 614087 Fanconi Anemia Fanconi Anaemia Tags
Red Red List (low evidence)	H19	3 reviews	Not set	Sources Emory Genetics Laboratory Expert Review Red UKGTN Phenotypes Beckwith-Wiedemann Syndrome Russell-Silver Syndrome Silver-Russell Syndrome Tags locus-type-rna-long-non-coding
Red Red List (low evidence)	IGF2	2 reviews 1 red	Not set	Sources Expert Review Red UKGTN Phenotypes Beckwith-Wiedemann Syndrome Tags
Red Red List (low evidence)	KCNQ1OT1	4 reviews 1 red	Not set	Sources Emory Genetics Laboratory Expert Review Red UKGTN Phenotypes Beckwith-Wiedemann Syndrome Tags locus-type-rna-long-non-coding
Red Red List (low evidence)	KLLN	1 review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Cowden syndrome 4, 615107 Tags
Red Red List (low evidence)	MTAP	1 review 1 green	Not set	Sources Expert List Tags
Red Red List (low evidence)	NFIX	2 reviews 1 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Marshall-Smith syndrome, 602535 Sotos syndrome 2, 614753 Tags
Red Red List (low evidence)	NHP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert List NHS GMS Phenotypes Dyskeratosis Congenita Tags
Red Red List (low evidence)	NOTCH3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Infantile myofibromatosis Tags
Red Red List (low evidence)	NRAS	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert List NHS GMS Phenotypes Cardio-Facio-cutanenous syndrome Noonan syndrome 6 613224 CFC Syndrome Tags
Red Red List (low evidence)	PAX6	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Morning glory disc anomaly, 120430 Aniridia, 106210 Cataract with late-onset corneal dystrohpy, 106210 Coloboma of optic nerve, 120430 Coloboma, ocular, 120200 Foveal hypoplasia 1, 136520 Gillespie syndrome, 206700 Keratitis, 148190 Optic nerve hypoplasia, 165550 Peters anomaly, 604229 Wagner Syndrome Aniridia PAX6-related Disorders Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome Tags
Red Red List (low evidence)	PIK3CA	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Phenotypes 1 report of several families in PTEN-negative Cowden Tags
Red Red List (low evidence)	SDHB	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Radboud University Medical Center, Nijmegen Phenotypes Paragangliomas 4, OMIM:115310 Pheochromocytoma, OMIM:171300 Paraganglioma and gastric stromal sarcoma, OMIM:606864 Gastrointestinal stromal tumor, OMIM:606764 Tags
Red Red List (low evidence)	SDHD	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Paragangliomas 1, with or without deafness, 168000 Pheochromocytoma, 171300 Carcinoid tumors, intestinal, 114900 Merkel cell carcinoma, somatic Paraganglioma and gastric stromal sarcoma, 606864 Cowden syndrome 3, 615106 Tags
Red Red List (low evidence)	SPRED1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Phenotypes Legius syndrome 611431 Tags
Red Red List (low evidence)	SQSTM1	1 review 1 green	Not set	Sources Expert List Tags
Red Red List (low evidence)	T	2 reviews 1 green	Not set	Sources Expert List Expert Review Red Tags new-gene-name
Red Red List (low evidence)	TNFRSF11A	1 review 1 green	Not set	Sources Expert List Tags
No list No list	KDM3B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Diets-Jongmans syndrome Tags

Major version comments

2023-03-22 14:53 Catherine Snow (Genomics England) promoted panel to 4.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (4.0) following this.

2022-11-30 14:49 Eleanor Williams (Genomics England Curator) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2019-12-10 11:44 Ivone Leong (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.36) was signed off under NHS Genomic Medicine Service governance on (10/12/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

30.03.2016 - Internally evaluated, and panel revised. Promoted to Version 1.0.

Childhood solid tumours (Version 4.9)

16 reviewers

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