RPS27

ribosomal protein S27
OMIM: 603702, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red RPS27 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.93

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 17, MIM# 617409

Red RPS27 in Diamond Blackfan anaemia


Level 2: Haematological disorders
Version 1.7

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 17, MIM# 617409

Red RPS27 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 17, MIM# 617409

Red RPS27 in Red cell disorders


Level 2: Haematological disorders
Version 1.24

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 17, MIM# 617409

Green RPS27 in IBMDx study


Version 0.25

review Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 17, MIM# 617409

Red RPS27 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 17, MIM# 617409
Tags
  • for review
  • treatable
  • haematological