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  3. RFWD3
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Fetal anomalies

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 3 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 25 Feb 2025, 11:15 a.m. | Last Modified: 25 Feb 2025, 11:15 a.m.
Panel Version: 5.78
This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.78

Soo-Mi Park (Cambridge University Hospital NHS Foundation Trust)

Green List (high evidence)

Evidence from chromosome breakage studies, cellular function studies and an animal model
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group W, MIM#617784

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Rhiannon Mellis (GOSH). To date, only a single patient has been reported in PMID: 28691929 - rating Red awaiting further cases.
Created: 19 May 2021, 3:44 p.m. | Last Modified: 19 May 2021, 3:44 p.m.
Panel Version: 1.662
Created: 19 May 2021, 3:44 p.m.
Last Modified: 19 May 2021, 3:44 p.m.
Panel version: 1.662

Rhiannon Mellis (Great Ormond Street Hospital)

Red List (low evidence)

Fetally relevant phenotype but only one case reported in literature so far so await further cases.

(In the single reported case, the child had: intrauterine growth retardation, duodenal atresia, radial ray malformations, bilateral absent thumbs, small midface, ventriculomegaly, hypoplastic left kidney, and polysplenia. Brain MRI showed rarefied periventricular white matter, narrow corpus callosum, abnormal pituitary, and Chiari malformation type I)
Sources: Literature
Created: 7 May 2021, 12:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anaemia

Publications

Created: 7 May 2021, 12:33 p.m.

Panel version: 1.648

Details

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

History Filter Activity

25 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review was removed from gene: RFWD3. Tag Q1_25_ promote_green was removed from gene: RFWD3.

25 Feb 2025, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to RFWD3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

21 Feb 2025, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review tag was added to gene: RFWD3. Tag Q1_25_ promote_green tag was added to gene: RFWD3.

20 Feb 2025, Gel status: 2

Added New Source, Added New Source, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to RFWD3. Source Expert Review Amber was added to RFWD3. Publications for gene: RFWD3 were updated from 28691929 to 2869192; 38058754; 28691929 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

19 May 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

19 May 2021, Gel status: 0

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: RFWD3 were set to PMID: 2869192

19 May 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: RFWD3 were changed from Fanconi anaemia to ?Fanconi anemia, complementation group W, OMIM:617784

7 May 2021, Gel status: 0

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

Rhiannon Mellis (Great Ormond Street Hospital)

gene: RFWD3 was added gene: RFWD3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFWD3 were set to PMID: 2869192 Phenotypes for gene: RFWD3 were set to Fanconi anaemia Review for gene: RFWD3 was set to RED