RPL36

ribosomal protein L36
ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber RPL36 in Diamond Blackfan anaemia


Level 2: Haematological disorders
Version 1.16

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Curated sources
  • Expert Review Amber
  • Expert Review Amber
  • Curated sources
Phenotypes
  • Osteosarcoma, soft tissue sarcomas
  • Diamond Blackfan Anemia
  • MDS, AML
  • Class: BM failure syndrome (typ AR)
  • Diamond-Blackfan anemia MONDO:0015253

Amber RPL36 in Mendeliome


Version 1.4558

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Curated sources
  • Expert Review Amber
  • Expert Review Amber
  • Curated sources
Phenotypes
  • Osteosarcoma, soft tissue sarcomas
  • Diamond Blackfan Anemia
  • MDS, AML
  • Class: BM failure syndrome (typ AR)
  • Diamond-Blackfan anemia MONDO:0015253