SRP72

signal recognition particle 72
OMIM: 602122, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber SRP72 in Haematological malignancies


Level 2: Cancer susceptibility
Version 0.148

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

Amber SRP72 in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.8

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 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 2.362

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