RPL31

ribosomal protein L31
OMIM: 617415, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber RPL31 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.93

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Diamond Blackfan anaemia

Amber RPL31 in Diamond Blackfan anaemia


Level 2: Haematological disorders
Version 1.7

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond Blackfan anaemia

Amber RPL31 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond Blackfan anaemia

Amber RPL31 in Red cell disorders


Level 2: Haematological disorders
Version 1.24

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond Blackfan anaemia

Green RPL31 in IBMDx study


Version 0.25

review Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Amber
  • Expert list
Phenotypes
  • Diamond Blackfan anaemia