Skeletal dysplasia
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, 11:09 p.m. | Last Modified: 21 Nov 2021, 11:09 p.m.

Panel Version: 0.9779

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

18485326

Created: 21 Nov 2021, 11:09 p.m.
Last Modified: 21 Nov 2021, 11:09 p.m.
Panel version: Imported from Mendeliome panel version 0.9779

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Spondylocostal dysostosis 2, autosomal recessive 608681

OMIM

605195

Clinvar variants

Variants in MESP2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MESP2 was added gene: MESP2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MESP2 were set to 15122512; 18485326 Phenotypes for gene: MESP2 were set to Spondylocostal dysostosis 2, autosomal recessive 608681

Skeletal dysplasia Gene: MESP2