Genomics England

Embryonal tumour of possible germline origin (Version: )

Relevant disorders: R456

Signed off date: 6 May 2026

Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off

27 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ALK	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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	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	DICER1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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	EZH2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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	PHOX2B	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	PTPN11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	REST	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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	SUFU	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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	N/A
Green	TRIM37	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIP13	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WT1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A

Embryonal tumour of possible germline origin (Version: 1.0)

Embryonal tumour of possible germline origin (Version: )