TTLL5:Ensemblv115

tubulin tyrosine ligase like 5
OMIM: 612268, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green TTLL5 in Cone-rod Dystrophy


Level 2: Ophthalmological disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Cone-rod dystrophy 19,615860