RPL26

ribosomal protein L26
OMIM: 603704, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green RPL26 in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Diamond-Blackfan anemia 11, MIM# 614900

Green RPL26 in Diamond Blackfan anaemia


Level 2: Haematological disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 11, MIM# 614900

Green RPL26 in Mendeliome


Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anaemia 11, MIM# 614900

Green RPL26 in Radial Ray Abnormalities


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anaemia 11, MIM# 614900

Green RPL26 in Red cell disorders


Level 2: Haematological disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anaemia 11, MIM# 614900

Green RPL26 in Fetal anomalies


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Diamond-Blackfan anaemia 11, MIM# 614900

Amber RPL26 in IBMDx study


Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • IBMDx Study
  • Expert list
Phenotypes
  • Diamond-Blackfan anemia 11, MIM# 614900

Red RPL26 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BeginNGS
Phenotypes
  • Diamond-Blackfan anaemia 11 , MIM# 614900