1. Panels
  2. Familial tumours of the nervous system
The latest signed off version for the GMS is v2.0. The current version, shown here, may differ from the signed-off version.

Familial tumours of the nervous system (Version 2.14)

Level 2: Neurology

Relevant disorders: R221
Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Latest signed off version: v2.0 (20 Dec 2023)
Previously signed off versions: v1.0
Description
This panel is used for clinical indication 'R221 Familial tumours of the nervous system' 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 'R221 Familial tumours of the nervous system'.

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

4 reviewers

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Terri McVeigh (Royal Marsden NHS Foundation Trust)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

8 Entities

8 reviewed, 7 green

List Entity Reviews Mode of inheritance Details
8 Entitiess
Green List (high evidence)
CDKN2A
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • {Melanoma, cutaneous malignant, 2}, OMIM:155601
  • {Melanoma and neural system tumor syndrome}, OMIM:155755
  • {Melanoma-pancreatic cancer syndrome}, OMIM:606719
  • melanoma, cutaneous malignant, susceptibility to, 2, MONDO:0007964
  • melanoma and neural system tumor syndrome, MONDO:0007967
  • melanoma-pancreatic cancer syndrome, MONDO:0011713
Tags
Green List (high evidence)
DGCR8
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Tags
  • gene-checked
Green List (high evidence)
LZTR1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Schwannomatosis-2, susceptibility to}, OMIM:615670
  • LZTR1-related schwannomatosis, MONDO:0014299
Tags
Green List (high evidence)
NF2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Schwannomatosis, vestibular, OMIM:101000
  • NF2-related schwannomatosis, MONDO:0007039
Tags
Green List (high evidence)
SMARCB1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Schwannomatosis-1, susceptibility to}, OMIM:162091
  • {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322
  • rhabdoid tumor predisposition syndrome 1, MONDO:0012252
  • SMARCB1-related schwannomatosis, MONDO:0024517
Tags
Green List (high evidence)
SMARCE1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Meningioma, familial, susceptibility to}, OMIM:607174
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
  • {Meningioma, familial, susceptibility to}, OMIM:607174
Tags
No list
LZTFL1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • NHS GMS
Tags
  • curated_removed

Major version comments

  • 2023-12-20 14:37 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 2.0
    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 (2.0) following this.

    2023-09-14 13:12 Eleanor Williams (Genomics England Curator) promoted panel to 1.0
    The content of this panel has been produced in agreement with the NHS Genomic Medicine Service. The panel was promoted to the first major version (1.0) following this.

Downloads

Download lists

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

Download Version