RPS28

ribosomal protein S28
OMIM: 603685, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Amber RPS28 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164

    Amber RPS28 in Diamond Blackfan anaemia


    Level 2: Haematological disorders
    Version 1.8

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164

    Amber RPS28 in Mandibulofacial Acrofacial dysostosis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.12

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164

    Amber RPS28 in Mendeliome


    Version 1.2374

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164

    Amber RPS28 in Pierre Robin Sequence


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.47

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164

    Red RPS28 in Radial Ray Abnormalities


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.15

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164

    Red RPS28 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM#606164

    Amber RPS28 in Red cell disorders


    Level 2: Haematological disorders
    Version 1.29

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164

    Amber RPS28 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.260

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164
    • Cleft palate

    Amber RPS28 in Fetal anomalies


    Version 1.314

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Diamond Blackfan anemia 15 with mandibulofacial dysostosis - MIM#606164

    Red RPS28 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BeginNGS
    Phenotypes
    • Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164
    Tags
    • for review
    • treatable
    • haematological