PanelApp
  1. Genes and Genomic Entities
  2. RPS29

RPS29

ribosomal protein S29
OMIM: 603633, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Amber RPS29 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.129

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anemia 13, MIM# 615909

    Amber RPS29 in Diamond Blackfan anaemia


    Level 2: Haematological disorders
    Version 1.11

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anemia 13, MIM# 615909

    Amber RPS29 in Mendeliome


    Version 1.3512

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anemia 13, MIM# 615909

    Amber RPS29 in Radial Ray Abnormalities


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.19

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anemia 13, MIM# 615909

    Amber RPS29 in Red cell disorders


    Level 2: Haematological disorders
    Version 1.33

    		1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Yorkshire and North East GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • North West GLH
    • London South GLH
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anaemia 13, MIM# 615909

    Amber RPS29 in Fetal anomalies


    Version 1.465

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Diamond-Blackfan anemia 13 - MIM#615909

    Green RPS29 in IBMDx study


    Version 0.38

    		1 review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anemia 13, MIM# 615909

    Red RPS29 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BeginNGS
    Phenotypes
    • Diamond-Blackfan anaemia 13, MIM# 615909
    Tags
    • for review
    • treatable
    • haematological