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  2. Embryonal tumour of possible germline origin

Embryonal tumour of possible germline origin (Version 0.10)

Level 2: Inherited cancer

Relevant disorders: R456
Panel types: GMS Rare Disease Virtual, GMS Rare Disease
Description
THIS PANEL IS CURRENTLY UNDER DEVELOPMENT.

This panel is used for clinical indication 'R456 Embryonal tumour of possible germline origin' in the NHS Genomic Medicine Service.

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 'R456 Embryonal tumour of possible germline origin'.

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 version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.
Panel Activity

2 reviewers

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

27 Entities

27 reviewed, 27 green

List Entity Reviews Mode of inheritance Details
27 Entitiess
Green List (high evidence)
ALK
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Neuroblastoma, susceptibility to, 3}, OMIM:613014
  • neuroblastoma, susceptibility to, 3, MONDO:0013083
Tags
Green List (high evidence)
BUB1B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mosaic variegated aneuploidy syndrome 1, OMIM:257300
  • mosaic variegated aneuploidy syndrome 1, MONDO:0009759
Tags
Green List (high evidence)
CBL
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • CBL-related disorder, MONDO:0013308
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563
  • ?Juvenile myelomonocytic leukemia, OMIM:607785
Tags
Green List (high evidence)
CDKN1C
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Beckwith-Wiedemann syndrome, MONDO:0007534
  • Beckwith-Wiedemann syndrome, OMIM:130650
Tags
Green List (high evidence)
CTR9
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Wilms tumor, MONDO:0006058
Tags
  • gene-checked
Green List (high evidence)
DICER1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Rhabdomyosarcoma, embryonal, 2, OMIM:180295
  • DICER1-related tumor predisposition, MONDO:0100216
  • rhabdomyosarcoma, embryonal, 2, MONDO:0859046
  • Pleuropulmonary blastoma, OMIM:601200
  • Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, OMIM:138800
Tags
Green List (high evidence)
DIS3L2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Perlman syndrome, MONDO:0009965
  • Perlman syndrome, OMIM:267000
Tags
Green List (high evidence)
ELP1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Medulloblastoma}, OMIM:155255
Tags
Green List (high evidence)
EZH2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Weaver syndrome, OMIM:277590
  • Weaver syndrome, MONDO:0010193
Tags
Green List (high evidence)
GPC3
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Simpson-Golabi-Behmel syndrome type 1, MONDO:0020602
  • Simpson-Golabi-Behmel syndrome, type 1, OMIM:312870
Tags
Green List (high evidence)
GPR161
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Medulloblastoma predisposition syndrome}, OMIM:155255
Tags
Green List (high evidence)
HRAS
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Costello syndrome, MONDO:0009026
  • Costello syndrome, OMIM:218040
Tags
Green List (high evidence)
11p13 (WAGR syndrome) region Loss
ISCA-37401-Loss
Region
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome, OMIM:194072
  • WAGR syndrome, MONDO:0008681
Tags
Green List (high evidence)
KRAS
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Noonan syndrome 3, MONDO:0012371
  • cardiofaciocutaneous syndrome 2, MONDO:0014112
  • Cardiofaciocutaneous syndrome 2, OMIM:615278
  • RAS-associated autoimmune leukoproliferative disorder, OMIM:614470
  • Noonan syndrome 3, OMIM:609942
Tags
Green List (high evidence)
PHOX2B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, MONDO:0800026
  • neuroblastoma, susceptibility to, 2, MONDO:0700041
  • {Neuroblastoma, susceptibility to, 2}, OMIM:613013
  • Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM:209880
Tags
Green List (high evidence)
PTCH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Basal cell nevus syndrome 1, OMIM:109400
  • basal cell nevus syndrome 1, MONDO:0958174
Tags
Green List (high evidence)
PTPN11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Noonan syndrome 1, MONDO:0008104
  • Noonan syndrome 1, OMIM:163950
Tags
Green List (high evidence)
REST
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Wilms tumor 6, MONDO:0014779
  • {Wilms tumor 6, susceptibility to}, OMIM:616806
Tags
Green List (high evidence)
SMARCA4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Rhabdoid tumor predisposition syndrome 2, MONDO:0013224
  • {Rhabdoid tumor predisposition syndrome 2}, OMIM:613325
Tags
Green List (high evidence)
SMARCB1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • SMARCB1-related schwannomatosis, MONDO:0024517
  • rhabdoid tumor predisposition syndrome 1, MONDO:0012252
  • {Schwannomatosis-1, susceptibility to}, OMIM:162091
  • {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322
Tags
Green List (high evidence)
SOS1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Noonan syndrome 4, OMIM:610733
  • Noonan syndrome 4, MONDO:0012547
Tags
Green List (high evidence)
SUFU
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Medulloblastoma}, OMIM:155255
  • Basal cell nevus syndrome 2, OMIM:620343
  • {Meningioma, familial, susceptibility to}, OMIM:607174
  • basal cell nevus syndrome 2, MONDO:0958189
Tags
Green List (high evidence)
TP53
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Colorectal cancer}, OMIM:114500
  • {Adrenocortical carcinoma, pediatric}, OMIM:202300
  • choroid plexus papilloma, MONDO:0009837
  • {Choroid plexus papilloma}, OMIM:260500
  • Li-Fraumeni syndrome, MONDO:0018875
  • nasopharyngeal carcinoma, susceptibility to, 1, MONDO:0011775
  • {Basal cell carcinoma 7}, OMIM:614740
  • Li-Fraumeni syndrome, OMIM:151623
  • basal cell carcinoma, susceptibility to, 7, MONDO:0013876
  • {Glioma susceptibility 1}, OMIM:137800
  • adrenocortical carcinoma, hereditary, MONDO:0008734
Tags
Green List (high evidence)
TRIM28
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Wilms tumor 7, MONDO:0979876
  • Wilms tumor 7, OMIM:621332
Tags
Green List (high evidence)
TRIM37
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • mulibrey nanism, MONDO:0009664
  • Mulibrey nanism, OMIM:253250
Tags
Green List (high evidence)
TRIP13
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mosaic variegated aneuploidy syndrome 3, OMIM:617598
  • mosaic variegated aneuploidy syndrome 3, MONDO:0054736
Tags
Green List (high evidence)
WT1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Frasier syndrome, OMIM:136680
  • Wilms tumor, type 1, OMIM:194070
  • Wilms tumor 1, MONDO:0008679
  • Frasier syndrome, MONDO:0007635
  • Denys-Drash syndrome, OMIM:194080
  • Denys-Drash syndrome, MONDO:0008682
Tags

Downloads

Download lists

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

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