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STRs in panel
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COVID-19 research

Gene: RFWD3

Green List (high evidence)

RFWD3 (ring finger and WD repeat domain 3)
EnsemblGeneIds (GRCh38): ENSG00000168411
EnsemblGeneIds (GRCh37): ENSG00000168411
OMIM: 614151, Gene2Phenotype
RFWD3 is in 1 panel

2 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

IUIS gene
Created: 1 May 2020, 12:44 p.m. | Last Modified: 1 May 2020, 12:44 p.m.
Panel Version: 0.171

Ivone Leong (Genomics England Curator)

Green List (high evidence)

IUIS: categorised under bone marrow failure with immune deficiency - Fanconi Anemia section. Inheritance AR. T cells: normal to low. B cells: normal to low. Other affected cells: HSC. Associated features: Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage.
Created: 15 Apr 2020, 12:09 p.m. | Last Modified: 15 Apr 2020, 12:09 p.m.
Panel Version: 0.103

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Fanconi anemia, complementation group W, 617784

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
  • Expert Review Green
Phenotypes
  • ?Fanconi anemia, complementation group W, 617784
OMIM
614151
Clinvar variants
Variants in RFWD3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: RFWD3 was added gene: RFWD3 was added to Viral susceptibility. Sources: Expert Review Green,IUIS Classification December 2019 Mode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFWD3 were set to 32086639; 32048120 Phenotypes for gene: RFWD3 were set to ?Fanconi anemia, complementation group W, 617784