SRP72:Ensemblv115

signal recognition particle 72
OMIM: 602122, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Amber SRP72 in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Amber
Phenotypes
  • Bone marrow failure syndrome 1, MIM# 614675
Tags
  • disputed