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  2. Chromosome Breakage Disorders
  3. RFWD3
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Chromosome Breakage Disorders

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Now 2 families reported
Created: 19 Dec 2024, 10:58 p.m. | Last Modified: 19 Dec 2024, 10:58 p.m.
Panel Version: 1.19

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia MONDO:0019391

Publications

Created: 19 Dec 2024, 10:58 p.m.
Last Modified: 19 Dec 2024, 10:58 p.m.
Panel version: 1.19

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported, functional data.
Sources: Expert list
Created: 6 Apr 2020, 2:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group W, MIM# 617784

Publications

Created: 6 Apr 2020, 2:20 a.m.

Panel version: 0.14

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Fanconi anemia, complementation group W, MIM# 617784
OMIM
614151
Clinvar variants
Variants in RFWD3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Dec 2024, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: RFWD3 were set to 28691929

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).

6 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rfwd3 has been classified as Red List (Low Evidence).

6 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RFWD3 was added gene: RFWD3 was added to Chromosome Breakage Disorders. Sources: Expert list Mode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFWD3 were set to 28691929 Phenotypes for gene: RFWD3 were set to Fanconi anemia, complementation group W, MIM# 617784 Review for gene: RFWD3 was set to RED