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  2. Lymphoedema_nonsyndromic
  3. MDFIC
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Lymphoedema_nonsyndromic

Gene: MDFIC

Green List (high evidence)
MDFIC (MyoD family inhibitor domain containing)
EnsemblGeneIds (GRCh38): ENSG00000135272
EnsemblGeneIds (GRCh37): ENSG00000135272
OMIM: 614511, Gene2Phenotype
MDFIC is in 4 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic LoF variants associated with central conducting lymphatic anomaly.
Sources: Literature
Created: 27 Nov 2024, 11:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lymphatic malformation 12 - MIM#620014

Publications

Created: 27 Nov 2024, 11:59 p.m.

Panel version: 0.40

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lymphatic malformation 12 - MIM#620014
OMIM
614511
Clinvar variants
Variants in MDFIC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mdfic has been classified as Green List (High Evidence).

4 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mdfic has been classified as Green List (High Evidence).

4 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mdfic has been classified as Green List (High Evidence).

27 Nov 2024, Gel status: 1

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: MDFIC was added gene: MDFIC was added to Lymphoedema_nonsyndromic. Sources: Literature Mode of inheritance for gene: MDFIC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MDFIC were set to PMID: 35235341 Phenotypes for gene: MDFIC were set to Lymphatic malformation 12 - MIM#620014 Review for gene: MDFIC was set to GREEN