Skeletal Dysplasia_Fetal
Gene: MESP2

MESP2 (mesoderm posterior bHLH transcription factor 2)
EnsemblGeneIds (GRCh38): ENSG00000188095
EnsemblGeneIds (GRCh37): ENSG00000188095
OMIM: 605195, Gene2Phenotype
MESP2 is in 10 panels

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

Three different biallelic MESP2 variants identified in 13 Puerto Rican families with Spondylothoracic dysostosis (STD). STD is characterized by abnormal vertebral segmentation and defects affecting spine formation, with complete bilateral fusion of the ribs at the costovertebral junction producing a “crab-like” configuration of the thorax. Short stature and shortened trunk reported. p.Glu103* is a common found mutation.
Created: 21 Nov 2021, 11:04 p.m. | Last Modified: 21 Nov 2021, 11:04 p.m.

Panel Version: 0.582

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylocostal dysostosis 2, autosomal recessive (MIM#608681)

Publications

18485326

Created: 21 Nov 2021, 11:04 p.m.
Last Modified: 21 Nov 2021, 11:04 p.m.
Panel version: Imported from Fetal anomalies panel version 0.582

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

Phenotypes

Spondylocostal dysostosis 2, autosomal recessive (MIM#608681)

OMIM

605195

Clinvar variants

Variants in MESP2

Penetrance

None

Publications

18485326

Panels with this gene