RPL9

ribosomal protein L9
OMIM: 603686, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber RPL9 in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.0

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

Amber RPL9 in Diamond Blackfan anaemia


Level 2: Haematological disorders
Version 2.0

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

Amber RPL9 in Mendeliome


Version 2.0

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

Amber RPL9 in Red cell disorders


Level 2: Haematological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
  • Expert list
Phenotypes
  • Diamond Blackfan anaemia

Green RPL9 in IBMDx study


Version 1.0

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