RPS15A

ribosomal protein S15a
OMIM: 603674, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red RPS15A in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.93

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Diamond-Blackfan anemia 20, MIM# 618313

Red RPS15A in Diamond Blackfan anaemia


Level 2: Haematological disorders
Version 1.7

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Diamond-Blackfan anemia 20, MIM# 618313

Red RPS15A in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Diamond-Blackfan anemia 20, MIM# 618313

Red RPS15A in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BeginNGS
Phenotypes
  • Diamond-Blackfan anaemia 20, MIM# 618313
Tags
  • for review
  • treatable
  • haematological