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  2. Radial Ray Abnormalities
  3. RFWD3
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Radial Ray Abnormalities

Gene: RFWD3

Amber List (moderate evidence)
RFWD3 (ring finger and WD repeat domain 3)
EnsemblGeneIds (GRCh38): ENSG00000168411
EnsemblGeneIds (GRCh37): ENSG00000168411
OMIM: 614151, Gene2Phenotype
RFWD3 is in 6 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Only 2 families reported, with radial ray defects as part of the phenotype.
Sources: Literature
Created: 19 Dec 2024, 10:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia MONDO:0019391

Publications

Created: 19 Dec 2024, 10:02 p.m.

Panel version: 1.14

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Fanconi anemia MONDO:0019391
OMIM
614151
Clinvar variants
Variants in RFWD3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rfwd3 has been classified as Amber List (Moderate Evidence).

19 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rfwd3 has been classified as Amber List (Moderate Evidence).

19 Dec 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: RFWD3 was added gene: RFWD3 was added to Radial Ray Abnormalities. Sources: Literature Mode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFWD3 were set to 28691929; 38058754 Phenotypes for gene: RFWD3 were set to Fanconi anemia MONDO:0019391 Review for gene: RFWD3 was set to AMBER