RPL27

ribosomal protein L27
OMIM: 607526, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red RPL27 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 16, MIM# 617408

Red RPL27 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 16, MIM# 617408

Red RPL27 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 16, MIM# 617408

Red RPL27 in Red cell disorders


Level 2: Haematological disorders
Version 1.24

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London South GLH
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 16, MIM# 617408

Amber RPL27 in IBMDx study


Version 0.25

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • IBMDx Study
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 16, MIM# 617408

Red RPL27 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 16 , MIM# 617408