HBS1L

HBS1 like translational GTPase
OMIM: 612450, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber HBS1L in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinal disorder MONDO:0005283

Amber HBS1L in Syndromic Retinopathy


Level 2: Ophthalmological disorders
Version 0.219

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Retinal disorder MONDO:0005283