KATNA1

katanin catalytic subunit A1
OMIM: 606696, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber KATNA1 in Mendeliome


Version 2.516

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Macular dystrophy, non-syndromic MONDO:0020242
Tags
  • preprint

Amber KATNA1 in Macular Dystrophy/Stargardt Disease


Level 2: Ophthalmological disorders
Version 1.2

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Macular dystrophy, non-syndromic MONDO:0020242
    Tags
    • preprint