PanelApp
  1. Genes and Genomic Entities
  2. RFWD3

RFWD3

ring finger and WD repeat domain 3
OMIM: 614151, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber RFWD3 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.129

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Fanconi anemia, complementation group W, MIM# 617784

    Amber RFWD3 in Chromosome Breakage Disorders


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.24

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Fanconi anemia, complementation group W, MIM# 617784

    Amber RFWD3 in Mendeliome


    Version 1.3512

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anemia, complementation group W, MIM# 617784

    Amber RFWD3 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Fanconi anemia MONDO:0019391

    Amber RFWD3 in Fetal anomalies


    Version 1.465

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    Phenotypes
    • Fanconi anaemia, complementation group W, OMIM:617784

    Red RFWD3 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BeginNGS
    Phenotypes
    • Fanconi anaemia, complementation group W, MIM# 617784