Description
Cerebral folate deficiency eligibility statement:

Specific metabolic abnormalities eligibility statements.

Specific Metabolic Abnormalities inclusion criteria (29455)
- Evidence of inborn error of metabolism as demonstrated by findings in at least 2 of the following areas:
  - Clinical presentation
  - Biochemical
  - Haematological
  - Radiological
- Biochemical testing and genetic testing completed for relevant known inborn errors of metabolism

Specific Metabolic Abnormalities exclusion criteria (29455)

Prior genetic testing guidance (29455)
- 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.

Specific Metabolic Abnormalities prior genetic testing genes (29455)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 - Genetic testing completed for relevant known inborn errors of metabolism

Closing statement (29455)
These requirements will be kept under continual review during the main programme and may be subject to change.

3 reviewers

  • Siddharth Banka banka (Univesrsity of Manchester)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Helen Savage (Congenica Ltd)

    Group: Other biotech or pharmaceutical
    Workplace: Other clinical service

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

4 Entities

4 reviewed, 4 green

List Entity Reviews Mode of inheritance Details
4 Entitiess
Green Green List (high evidence)
DHFR
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Megaloblastic anemia due to dihydrofolate reductase deficiency 613839
Tags
Green Green List (high evidence)
FOLR1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neurodegeneration due to cerebral folate transport deficiency, 613068
Tags
Green Green List (high evidence)
MTHFR
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Homocystinuria due to MTHFR deficiency 236250
Tags
Green Green List (high evidence)
SLC46A1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Folate malabsorption, hereditary 229050
Tags

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