TUBA3D

tubulin alpha 3d
ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber TUBA3D in Corneal Dystrophy


Level 2: Ophthalmological disorders
Version 1.21

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Amber
  • Expert Review Amber
  • Literature
Phenotypes
  • keratoconus MONDO:0015486

Amber TUBA3D in Mendeliome


Version 1.4516

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • keratoconus MONDO:0015486