SRP72

signal recognition particle 72
OMIM: 602122, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber SRP72 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.93

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

Amber SRP72 in Mendeliome


Version 1.1891

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