PanelApp (test)
  1. Genes and Genomic Entities
  2. RPS17

RPS17

ribosomal protein S17
OMIM: 180472, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green RPS17 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.93

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Diamond-Blackfan anaemia 4, MIM# 612527
  • MONDO:0012924

Green RPS17 in Diamond Blackfan anaemia


Level 2: Haematological disorders
Version 1.7

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 4, MIM# 612527

Green RPS17 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anaemia 4, MIM# 612527
  • MONDO:0012924

Green RPS17 in Radial Ray Abnormalities


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.10

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anaemia 4, MIM# 612527
    • MONDO:0012924

    Green RPS17 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Diamond-Blackfan anemia

    Green RPS17 in Red cell disorders


    Level 2: Haematological disorders
    Version 1.24

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Yorkshire and North East GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • North West GLH
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anaemia 4, MIM# 612527

    Red RPS17 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.252

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    Phenotypes
    • DIAMOND-BLACKFAN ANEMIA 4
    • DBA4

    Green RPS17 in Fetal anomalies


    Version 1.255

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anaemia 4, MIM# 612527

    Green RPS17 in IBMDx study


    Version 0.25

    		review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    • Expert list
    Phenotypes
    • Diamond-Blackfan anaemia 4, MIM# 612527
    • MONDO:0012924

    Green RPS17 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Diamond-Blackfan anaemia, MIM#612527
    Tags
    • treatable
    • haematological