Description
Severe familial anorexia eligibility statement:

Severe familial anorexia inclusion criteria (29475)
- Anorexia nervosa restricting or binge/purge type 
- Duration of >5 years 
- At least one first- or two second- degree relative affected 
- Minimum BMI of 16 kg/m2 
- Maintenance of low BMI 
- Other indices of starvation may be present such as amenorrhea (in women), lanugo, bradycardia, hypotension, hypoleptinemia,  

The optimal family structure for Severe familial anorexia is to recruit the affected proband, their parents, and any affected siblings; outside this structure, no other unaffected relatives should be recruited.

Severe familial anorexia exclusion criteria (29475)
- Acute onset after head injury
- Primary Adrenal insufficiency, Crohns, inflammatory bowel disease, cealiac disease, ulcerative colitis

Prior genetic testing guidance (29475)
- 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.

Severe familial anorexia prior genetic testing genes (29475)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 No genes listed

Closing statement (29475)
These requirements will be kept under continual review during the main programme and may be subject to change.

Note: Although this panel has no green entities it is appropriate to apply it to research-focused cohorts

1 reviewer

  • Gerome Breen (King's College London)

    Group: GeCIP domain
    Workplace: Research lab

1 Entities

1 reviewed, 0 green

List Entity Reviews Mode of inheritance Details
1 Entities
Red Red List (low evidence)
BDNF
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Memory impairment, susceptibility to}Central hypoventilation syndrome, congenital, 209880{Obsessive-compulsive disorder, protection against}, 164230{Bulimia nervosa, age of onset of weight loss in},607499{Anorexia nervosa, susceptibi
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