Description
Genes causing the potential monogenic subset of cases in this condition have not yet been described with sufficient evidence for 'green' status in PanelApp. This will be kept under review as further evidence accumulates. 

No genes were found in the 4 sources searched for this disorder category. Reviewers have the ability to add known associated genes below. 

Juvenile dermatomyositis eligibility statement:
Juvenile dermatomyositis inclusion criteria (29725)
- Any child/young person aged 18 years or younger that has been diagnosed with one of the following:
  - Definite/probable juvenile dermatomyositis (JDM)
  - Definite/probable polymyositis
  - JDM or polymyositis overlap with scleroderma, chronic polyarthritis, mixed connective tissue disease or systemic lupus erythematosus
  - Mixed connective tissue disease
  - Other idiopathic inflammatory myopathy
- Focus will be in specific endo-phenotypes (e.g. calcinosis, lipodystrophy)

Juvenile dermatomyositis exclusion criteria (29725)
- Entry into another registry
- Children diagnosed with other types of myositis (e.g. septic myositis of infectious cause)

Prior genetic testing guidance (29725)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Closing statement (29725)
These requirements will be kept under continual review during the main programme and may be subject to change.

5 Entities

0 reviewed, 0 green

List Entity Reviews Mode of inheritance Details
5 Entitiess
Red Red List (low evidence)
RNASEH2A
0 reviews
Not set
Sources
  • Expert list
Phenotypes
  • Aicardi Goutieres Syndrome
Tags
Red Red List (low evidence)
RNASEH2B
0 reviews
Not set
Sources
  • Expert list
Phenotypes
  • Aicardi Goutieres Syndrome
Tags
Red Red List (low evidence)
RNASEH2C
0 reviews
Not set
Sources
  • Expert list
Phenotypes
  • Aicardi Goutieres Syndrome
Tags
Red Red List (low evidence)
SAMHD1
0 reviews
Not set
Sources
  • Expert list
Phenotypes
  • Aicardi Goutieres Syndrome
Tags
Red Red List (low evidence)
TREX1
0 reviews
Not set
Sources
  • Expert list
Phenotypes
  • Aicardi Goutieres Syndrome
Tags

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