1. Genes and Genomic Entities
  2. RPS19

RPS19

ribosomal protein S19
OMIM: 603474, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Green RPS19 in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Diamond-Blackfan anemia 1, 105650
  • Mild radial hypoplasia
  • Hypoplastic thumbs
  • Absent thumbs
  • Triphalangeal thumbs
Green RPS19 in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.16

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 RPS19 in Limb disorders


Version 4.19
Latest signed off version: v4.0 (22 Mar 2023)

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
    • Mild radial hypoplasia
    • Diamond-Blackfan anemia 1, 105650
    • Hypoplastic thumbs
    • Absent thumbs
    • Radial Ray abnormality
    • Triphalangeal thumbs
    Green RPS19 in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.118

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Expert list
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Inherited Bone Marrow Failure Syndromes
    • Diamond Blackfan anemia
    • Diamond-Blackfan Anemia
    • Diamond-Blackfan anemia 1, 105650
    • Diamond_Blackfan Anemia
    • DIAMOND-BLACKFAN ANEMIA 1
    Green RPS19 in Haematological malignancies cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 4.4
    Latest signed off version: v4.0 (22 Mar 2023)

    		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 RPS19 in Rare anaemia


    Version 3.8
    Latest signed off version: v3.0 (22 Mar 2023)

    		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
    • 105650 Diamond_Blackfan Anemia 1
    • Diamond_Blackfan Anemia
    • Diamond-Blackfan anemia 1, 105650
    • DIAMOND-BLACKFAN ANEMIA 1
    • 105650 Diamond-Blackfan anemia 1
    • Diamond-Blackfan Anemia
    • Inherited Bone Marrow Failure Syndromes
    • Diamond Blackfan anemia
    Green RPS19 in Cytopenia - NOT Fanconi anaemia


    Version 3.32
    Latest signed off version: v3.0 (22 Mar 2023)

    		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
    • Diamond-Blackfan anemia 1, 105650
    • DIAMOND-BLACKFAN ANEMIA 1
    • Diamond-Blackfan Anemia
    • Inherited Bone Marrow Failure Syndromes
    • Diamond Blackfan anemia
    Green RPS19 in Fetal anomalies


    Version 3.157
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • RPS19-RELATED DIAMOND-BLACKFAN ANEMIA
    Green RPS19 in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • RPS19-RELATED DIAMOND-BLACKFAN ANEMIA 220176
    Red RPS19 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.109
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    Phenotypes
    • DIAMOND-BLACKFAN ANEMIA 1
    • DBA1
    Red RPS19 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.536
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Diamond-Blackfan anemia 1, 105650
    Green RPS19 in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Diamond-Blackfan anemia 1, 105650