Inclusion Criteria
•	4 consecutive months of amenorrhoea (primary or secondary), AND
•	Elevated serum FSH of >30IU/L on two separate occasions at least 6 weeks apart, AND
•	Age of onset is <30 years, AND
•	At least one other close family member (sister, mother, aunt or first cousin) with POF, AND
•	Availability of at least 1 additional affected family member to take part in the project

Exclusion Criteria
•	X chromosome abnormality such as Turner syndrome
•	Presence of FMR1 premutation
•	Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)
•	Presence of thyroid or adrenal auto-antibodies

Prior Genetic Testing:
- Results should have been reviewed for all genetic tests undertaken. This includes review of available exome sequencing data, but where this is the case can be limited to genes specified within disease-relevant in silico panels. The patient is not eligible if a pathogenic variant has been identified in any gene related to their phenotype.
- Standard local genetic testing and nationally commissioned testing for this phenotype should have been completed AND
- Testing should be undertaken for any individual gene for which diagnostic yield is >10% for this phenotype AND
- The following specific gene tests are advised as a means of limiting the re-discovery of recognised pathogenic variants that could be more efficiently identified through the existing catalogue of UKGTN tests: Fragile-X testing; chromosome testing (karyotype or microarray) 

These requirements will be kept under continual review during the main programme and may be subject to change.

2 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Alice Gardham (Genomics England)

    Group: Other
    Workplace: Other

3 Entities

1 reviewed, 0 green

List Entity Reviews Mode of inheritance Details
3 Entitiess
Red Red List (low evidence)
2 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
  • Eligibility statement prior genetic testing
  • Other
  • Premature ovarian failure 1
  • Fragile X tremor/ataxia syndrome
  • Fragile X syndrome
  • Fragile X Mental Retardation Syndrome
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Expert Review
  • BPES (MIM 110100)
Red Red List (low evidence)
0 reviews
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review


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