GeneReview Scope: WFS1 Spectrum Disorder

Number of WFS1 Pathogenic VariantsMode of InheritancePhenotypic SpectrumPrevious Phenotypic Designations
Two (i.e., biallelic) pathogenic variantsARClassic WFS1 spectrum disorder
  • Wolfram syndrome type 1
  • DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, & deafness)
One (i.e., heterozygous) pathogenic variantAD (inherited or de novo)Nonclassic WFS1 spectrum disorder (i.e., one isolated or several related findings) 1Wolfram syndrome-like disease

AD = autosomal dominant; AR = autosomal recessive

1.

Includes isolated autosomal dominant WFS1-related nonsyndromic low-frequency sensorineural hearing loss (DFNA6/14/38).

From: WFS1 Spectrum Disorder

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