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 1.14

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 1.4

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 2.48
Latest signed off version: v2.2 (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
    • 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 1.87

    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 2.18
    Latest signed off version: v2.2 (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 RPS19 in Rare anaemia


    Version 1.24
    Latest signed off version: v1.2 (3 Mar 2020)

    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 1.42
    Latest signed off version: v1.29 (15 Oct 2020)

    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 1.698
    Latest signed off version: v1.92 (21 Aug 2020)

    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 2.39
    Latest signed off version: v2.2 (13 Feb 2020)

    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 2.46
    Latest signed off version: v2.2 (4 Mar 2020)

    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

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1212
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 1.81

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