RPS15

ribosomal protein S15
OMIM: 180535, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red RPS15 in Diamond Blackfan anaemia


Level 2: Haematological disorders
Version 1.7

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Diamond-Blackfan anaemia, MONDO:0015253, RPS15-related

Red RPS15 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Diamond-Blackfan anaemia, MONDO:0015253, RPS15-related

Green RPS15 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Diamond-Blackfan anemia

Red RPS15 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Diamond-Blackfan anaemia, MONDO:0015253, RPS15-related