Cytopenias and congenital anaemias
Gene: RFWD3

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

1 review

Øystein Holla (Telemark Hospital Trust)

Red List (low evidence)

Only one compound heterozygote published, c.205_206dupCC; p.L69Pfs*12) and c.1916T>A; p.I639K. (PMID:28691929).
Sources: Literature
Created: 15 Feb 2023, 12:55 p.m. | Last Modified: 15 Feb 2023, 12:59 p.m.

Panel Version: 1.111

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia

Publications

28691929

Created: 15 Feb 2023, 12:55 p.m.
Last Modified: 15 Feb 2023, 12:59 p.m.
Panel version: 1.111

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Phenotypes

Fanconi anemia

OMIM

614151

Clinvar variants

Variants in RFWD3

Penetrance

unknown

Publications

28691929

Panels with this gene

History Filter Activity

15 Feb 2023, Gel status: 0

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

Øystein Holla (Telemark Hospital Trust)

gene: RFWD3 was added gene: RFWD3 was added to Cytopenias and congenital anaemias. Sources: Literature 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 Penetrance for gene: RFWD3 were set to unknown Review for gene: RFWD3 was set to RED

Cytopenias and congenital anaemias Gene: RFWD3