Congenital Heart Defect
Gene: MEIS2

MEIS2 (Meis homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000134138
EnsemblGeneIds (GRCh37): ENSG00000134138
OMIM: 601740, Gene2Phenotype
MEIS2 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Truncating variants spread throughout the gene have been reported pathogenic, as well as whole gene deletions, supporting LoF (Decipher, ClinVar). However, missense variants reported pathogenic within a cluster in the homeobox domain, leading authors to suggest a likely dominant-negative effect (no functional to prove) (PMID: 25712757).

17 individuals reported to date. Congenital heart disease is a key feature.
Created: 18 Nov 2021, 12:27 a.m. | Last Modified: 18 Nov 2021, 12:27 a.m.

Panel Version: 0.142

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cleft palate, cardiac defects, and mental retardation (MIM#600987)

Publications

Created: 18 Nov 2021, 12:27 a.m.
Last Modified: 18 Nov 2021, 12:27 a.m.
Panel version: 0.142

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Cleft palate, cardiac defects, and mental retardation (MIM#600987)

OMIM

601740

Clinvar variants

Variants in MEIS2

Penetrance

None

Publications

Panels with this gene