MESP2

mesoderm posterior bHLH transcription factor 2
OMIM: 605195, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green MESP2 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.223

review 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)

Green MESP2 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondylocostal dysostosis 2, autosomal recessive (MIM#608681)

Green MESP2 in Spondylocostal Dysostosis


Level 2: Skeletal disorders
Version 0.10

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green MESP2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spondylocostal dysostosis 2, autosomal recessive 608681

Green MESP2 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)

Red MESP2 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Spondylocostal dysostosis, autosomal recessive 2

Green MESP2 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Spondylocostal dysostosis 2, autosomal recessive (MIM#608681)

Green MESP2 in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)

Red MESP2 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Spondylocostal dysostosis, autosomal recessive 2

Green MESP2 in Prepair 500+


Level 2: Screening
Version 1.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)