Premature Ovarian Failure 2b; Pof2b

Clinical Features

Phenotypes and symptoms related to Premature Ovarian Failure 2b; Pof2b

  • Abnormality of the dentition
  • Osteoporosis
  • Delayed puberty
  • Amenorrhea
  • Primary amenorrhea
  • Tall stature
  • Premature ovarian insufficiency

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Premature Ovarian Failure 2b; Pof2b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Fragile X Mutation.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

POF1B, FMR1
Specificity
50 %
Genes
100 %
POF1B.

By Fulgent Genetics Fulgent Genetics (United States).

POF1B
Specificity
100 %
Genes
100 %
Premature Ovarian Failure (POF) and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics (Spain).

BMP15, FOXL2, STAR, WNT4, POF1B, PSMC3IP, NOBOX, FIGLA, CYP17A1, CYP19A1, DIAPH2, FSHB, FSHR, NR5A1
Specificity
8 %
Genes
100 %
Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics (Canada).

BMP15, FOXL2, POF1B, PSMC3IP, HFM1, NOBOX, FIGLA, CYP17A1, CYP19A1, DIAPH2, EIF2B2, EIF2B3, EIF2B5, FMR1, FSHR, GALT, GDF9, LHCGR, LMNA, NR5A1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Genetic Syndrome Finder

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