RFWD3

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red RFWD3 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.93

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Fanconi anemia, complementation group W, MIM# 617784

Red RFWD3 in Chromosome Breakage Disorders


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.19

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Fanconi anemia, complementation group W, MIM# 617784

Red RFWD3 in Mendeliome


Version 1.1891

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

Red RFWD3 in CGC_86


Version 0.2

review Other
Sources
  • CGC_86
Phenotypes
  • NA

Red RFWD3 in Fetal anomalies


Version 1.255

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

Red RFWD3 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

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