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  3. MCF2L
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Congenital Heart Defect

Gene: MCF2L

Red List (low evidence)
MCF2L (MCF.2 cell line derived transforming sequence like)
EnsemblGeneIds (GRCh38): ENSG00000126217
EnsemblGeneIds (GRCh37): ENSG00000126217
OMIM: 609499, Gene2Phenotype
MCF2L is in 2 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Red List (low evidence)

Three families with Systemic malformation (resulting in a left to right shunt instead of the right to left shunt seen in individuals with HHT) had missense variants in the MCF2L gene (families 1, 2 and 7).
Family 1 (Val875Met: v2 & v3: 113 hets) did no present PA (pulmonary artery).
Family 2 (Cys199Gly : v2 & v3: 260 hets, 1 hom) did no present PA (pulmonary artery).
Family 7: Leu130Pro (1 het, 0 hom), segregated in family 7 with SA-PA (systemic artery to the pulmonary artery), with 5x affected tested (Sanger or WES). Unaffected and other 6x individuals affected were not tested.
Sources: Literature
Created: 2 Mar 2023, 3:51 a.m.

Mode of inheritance
Unknown

Phenotypes
vascular malformation MONDO:0024291, MCF2L-related

Publications

Created: 2 Mar 2023, 3:51 a.m.

Panel version: 0.272

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • vascular malformation MONDO:0024291, MCF2L-related
OMIM
609499
Clinvar variants
Variants in MCF2L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Mar 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mcf2l has been classified as Red List (Low Evidence).

9 Mar 2023, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MCF2L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

9 Mar 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mcf2l has been classified as Red List (Low Evidence).

2 Mar 2023, Gel status: 0

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

Michelle Torres (Victorian Clinical Genetics Services)

gene: MCF2L was added gene: MCF2L was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: MCF2L was set to Unknown Publications for gene: MCF2L were set to 36760094 Phenotypes for gene: MCF2L were set to vascular malformation MONDO:0024291, MCF2L-related Review for gene: MCF2L was set to RED