REPS1

RALBP1 associated Eps domain containing 1
OMIM: 614825, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red REPS1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodegeneration with brain iron accumulation 7 , MIM# 617916

Red REPS1 in Neurodegeneration with brain iron accumulation


Level 2: Neurology and neurodevelopmental disorders
Version 0.35

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Neurodegeneration with brain iron accumulation 7 , MIM# 617916