REPS1

RALBP1 associated Eps domain containing 1
OMIM: 614825, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red REPS1 in Mendeliome


Version 2.0

1 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 2.0

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