RPL35

ribosomal protein L35
OMIM: 618315, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red RPL35 in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Diamond-Blackfan anemia 19, MIM# 618312

Red RPL35 in Diamond Blackfan anaemia


Level 2: Haematological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Diamond-Blackfan anemia 19, MIM# 618312

Red RPL35 in Mendeliome


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Diamond-Blackfan anemia 19, MIM# 618312

Red RPL35 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 19 , MIM# 618312