1. Panels
  2. Carney complex
The latest signed off version for the GMS is v1.0. The current version, shown here, may differ from the signed-off version.

Carney complex (Version 1.3)

Level 2: Endocrinology

Relevant disorders: R156
Panel types: GMS Rare Disease, GMS signed-off
Latest signed off version: v1.0 (14 Sep 2023)
Description
This panel is used for clinical indication 'R156 Carney complex' 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 'R156 Carney complex'.

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

1 reviewer

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

1 Entities

1 reviewed, 1 green

List Entity Reviews Mode of inheritance Details
1 Entities
Green List (high evidence)
PRKAR1A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Carney complex, OMIM:160980
  • Carney complex, type 1, MONDO:0008057
Tags

Major version comments

  • 2023-09-14 13:12 Achchuthan Shanmugasundram (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)

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