Genomics England

Childhood solid tumours (Version: )

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

Signed off date: 22 Mar 2023

Panel types: Rare Disease 100K, GMS Rare Disease, GMS Cancer Germline Virtual, GMS signed-off

See this panel in PanelApp

83 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ALK	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	APC	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BLM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BMPR1A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BRCA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRCA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRIP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BUB1B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CBL	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CDC73	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CDKN1C	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	N/A	N/A
Green	CTR9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	DDB2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DICER1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DIS3L2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELP1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ERCC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EZH2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FANCA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCB	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FANCC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCD2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCF	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCI	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPC3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GPR161	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HRAS	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37401-Loss 11p13 (WAGR syndrome) region Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KRAS	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MAX	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MEN1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MLH1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MSH2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MSH6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NBN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NF1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NF2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NSD1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PALB2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDGFRA	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PDGFRB	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PHOX2B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PMS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRKAR1A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PTCH1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PTEN	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PTPN11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RAF1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RB1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RECQL4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	REST	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RET	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	RTEL1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SHOC2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLX4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMAD4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMARCA4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMARCB1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOS1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	STK11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SUFU	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TERC	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TERT	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TP53	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRIM28	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	TRIM37	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIP13	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSC1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TSC2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	VHL	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	WRAP53	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WRN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WT1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	XPA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XPC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Childhood solid tumours (Version: 4.03.02.5)

Childhood solid tumours (Version: )