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Mendeliome

Gene: MESP2

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondylocostal dysostosis 2, autosomal recessive (MIM#608681)
OMIM
605195
Clinvar variants
Variants in MESP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mesp2 has been classified as Green List (High Evidence).

22 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MESP2 were changed from to Spondylocostal dysostosis 2, autosomal recessive (MIM#608681)

22 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MESP2 were set to

22 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MESP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MESP2 was added gene: MESP2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MESP2 was set to Unknown