RPS10

ribosomal protein S10
OMIM: 603632, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green RPS10 in ClinGen Gene Validity Curations


Version 0.64

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Diamond-Blackfan anemia
  • OrphaNet ORPHA124
  • OMIM 613308

Green RPS10 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 9, 613308
  • upper limb malformation

Green RPS10 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
  • Curated sources
  • Expert Review Green
Phenotypes
  • Class: BM failure syndrome (typ AR)
  • Diamond Blackfan Anemia
  • MDS, AML
  • Osteosarcoma, soft tissue sarcomas

Green RPS10 in Limb disorders


Version 2.3
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • upper limb malformation
    • Diamond-Blackfan anemia 9, 613308
    • Radial Ray abnormality

    Green RPS10 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
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    Phenotypes
    • Inherited Bone Marrow Failure Syndromes
    • Diamond Blackfan anemia
    • Diamond-Blackfan Anemia
    • Diamond-Blackfan anemia 9, 613308
    • Diamond_Blackfan Anemia 9
    • DIAMOND-BLACKFAN ANEMIA 9

    Green RPS10 in Haematological malignancies cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.3
    Signed off v.2.2 on 18 Feb 2020

    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 RPS10 in Rare anaemia


    Version 1.1
    Signed off v.1.0 on 23 Sep 2019

    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
    • 613308 Diamond_Blackfan Anemia 9
    • Diamond-Blackfan Anemia 9
    • Diamond_Blackfan Anemia 9
    • 613308 Diamond-Blackfan anemia 9
    • Diamond-Blackfan Anemia
    • Diamond-Blackfan anemia 9, 613308
    • DIAMOND-BLACKFAN ANEMIA 9
    • Inherited Bone Marrow Failure Syndromes
    • Diamond Blackfan anemia

    Green RPS10 in Cytopenia - NOT Fanconi anaemia


    Version 1.1
    Signed off v.1.0 on 12 Nov 2019

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • London South GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Inherited Bone Marrow Failure Syndromes
    • Diamond_Blackfan Anemia 9
    • Diamond-Blackfan Anemia
    • Diamond-Blackfan anemia 9, 613308
    • DIAMOND-BLACKFAN ANEMIA 9
    • Diamond Blackfan anemia

    Green RPS10 in Fetal anomalies


    Version 1.3
    Signed off v.1.2 on 17 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Diamond-Blackfan anemia 9 613308

    Green RPS10 in Severe Paediatric Disorders


    Version 1.1

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Diamond-Blackfan anemia 9, 613308