Fetal anomalies
Gene: MDFIC

MDFIC (MyoD family inhibitor domain containing)
EnsemblGeneIds (GRCh38): ENSG00000135272
EnsemblGeneIds (GRCh37): ENSG00000135272
OMIM: 614511, Gene2Phenotype
MDFIC is in 3 panels

3 reviews

Sahar Mansour (St George's Hospital, London)

Green List (high evidence)

Only 1 paper but 6 families and mouse model - convincing evidence. Causes fetal hydrops.
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
Lymphatic malformation 12, MIM#620014

Publications

35235341

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

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

Comment on list classification: There is sufficient evidence available (six unrelated cases and functional evidence) for the promotion of this gene to green rating in the next GMS update.
Created: 26 Jun 2024, 12:12 p.m. | Last Modified: 26 Jun 2024, 12:12 p.m.

Panel Version: 4.20

As reviewed by Dmitrijs Rot, PMID:35235341 reported the identification of biallelic pathogenic MDFIC variants in seven individuals with central conducting lymphatic anomaly (CCLA) from six unrelated families. Clinical manifestations of affected foetuses and children included nonimmune hydrops fetalis (NIHF), pleural and pericardial effusions, and lymphedema.

Generation of a mouse model of human MDFIC truncation variants revealed that homozygous mutant mice died perinatally exhibiting chylothorax.

This gene has been associated with relevant phenotype in OMIM (MIM #620014), but not yet in Gene2Phenotype.
Created: 26 Jun 2024, 12:10 p.m. | Last Modified: 26 Jun 2024, 12:10 p.m.

Panel Version: 4.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lymphatic malformation 12, OMIM:620014

Publications

35235341

Created: 26 Jun 2024, 12:10 p.m.
Last Modified: 26 Jun 2024, 12:10 p.m.
Panel version: 5.78

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

Six independet families with specific phenotype and AR inheritance + mouse model. Enough for green rating.
Sources: Literature
Created: 2 Jun 2024, 8:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
conducting lymphatic anomaly with lymphedema

Publications

PMID: 35235341

Created: 2 Jun 2024, 8:52 a.m.

Panel version: 4.1

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Lymphatic malformation 12, OMIM:620014

OMIM

614511

Clinvar variants

Variants in MDFIC

Penetrance

None

Publications

35235341

Panels with this gene