Prepair 1000+

Gene: FMR1

Green List (high evidence)

Additional assay performed as part of Prepair to detect triplet expansion.

Created: 24 Jan 2025, 12:27 a.m. | Last Modified: 24 Jan 2025, 12:27 a.m.

Panel Version: 1.1346

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Fragile X syndrome, MIM #300624

Green List (high evidence)

Characterised by moderately to severely impaired intellectual development, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw. In most cases, the disorder is caused by the unstable expansion of a CGG repeat in the FMR1 gene and abnormal methylation, which results in suppression of FMR1 transcription and decreased protein levels in the brain.
Fewer than 1% of individuals with FXS have a sequence variant, a partial deletion, or a full deletion of FMR1.

Created: 4 Nov 2024, 1:44 a.m. | Last Modified: 4 Nov 2024, 1:44 a.m.

Panel Version: 1.546

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Fragile X syndrome, MIM #300624

Publications

• PMID: 20301558
• 28176767
• 29178241