RPL35A

ribosomal protein L35a
OMIM: 180468, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green RPL35A in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.7

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Diamond-Blackfan anemia 5, 612528
  • upper limb malformation

Green RPL35A in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • Class: BM failure syndrome (typ AR)
  • Diamond Blackfan Anemia
  • MDS, AML
  • Osteosarcoma, soft tissue sarcomas

Green RPL35A in Limb disorders


Version 2.0

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • upper limb malformation
  • Diamond-Blackfan anemia 5, 612528
  • Radial Ray abnormality

Green RPL35A in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.73

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 5, 612528
  • Diamond_Blackfan Anemia 5
  • DIAMOND-BLACKFAN ANEMIA 5

Green RPL35A in Haematological malignancies cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.0

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • Class: BM failure syndrome (typ AR)
  • Diamond Blackfan Anemia
  • MDS, AML
  • Osteosarcoma, soft tissue sarcomas

Green RPL35A in Rare anaemia


Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • 612528 Diamond_Blackfan Anemia 5
  • Diamond-Blackfan Anemia 5
  • Diamond-Blackfan anemia 5, 612528
  • Diamond-Blackfan Anemia
  • 612528 Diamond-Blackfan anemia 5
  • DIAMOND-BLACKFAN ANEMIA 5
  • Inherited Bone Marrow Failure Syndromes
  • Diamond_Blackfan Anemia 5
  • Diamond Blackfan anemia

Green RPL35A in Cytopenia - NOT Fanconi anaemia


Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Diamond-Blackfan anemia 5, 612528
  • Diamond-Blackfan Anemia
  • DIAMOND-BLACKFAN ANEMIA 5
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan Anemia 5
  • Diamond Blackfan anemia

Red RPL35A in Fetal anomalies


Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Diamond-Blackfan anemia 5 612528