RPL18

ribosomal protein L18
OMIM: 604179, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber RPL18 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 anemia 18, MIM# 618310

Amber RPL18 in Diamond Blackfan anaemia


Level 2: Haematological disorders
Version 1.7

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Diamond-Blackfan anemia 18, MIM# 618310

Amber RPL18 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Diamond-Blackfan anemia 18, MIM# 618310

Amber RPL18 in Red cell disorders


Level 2: Haematological disorders
Version 1.24

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
  • Wessex and West Midlands GLH
  • NHS GMS
Phenotypes
  • Diamond-Blackfan anemia 18, MIM# 618310

Red RPL18 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.114

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BeginNGS
Phenotypes
  • Diamond-Blackfan anaemia 18 , MIM# 618310