FRY

FRY microtubule binding protein
OMIM: 614818, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber FRY in Mendeliome


Version 2.588

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Sensorineural hearing loss disorder, MONDO:0020678, FRY-related
  • Neurodevelopmental disorder, MONDO:0700092, FRY-related

Amber FRY in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.11

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Sensorineural hearing loss disorder, MONDO:0020678, FRY-related
  • Neurodevelopmental disorder, MONDO:0700092, FRY-related

Amber FRY in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.145

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Sensorineural hearing loss disorder, MONDO:0020678
  • Neurodevelopmental disorder, MONDO:0700092, FRY-related