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Skeletal Dysplasia_Fetal

Gene: MESD

Green List (high evidence)
MESD (mesoderm development LRP chaperone)
EnsemblGeneIds (GRCh38): ENSG00000117899
EnsemblGeneIds (GRCh37): ENSG00000117899
OMIM: 607783, Gene2Phenotype
MESD is in 7 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Osteogenesis imperfecta type XX (OI20) is a progressive deforming bone disorder characterized by osteopenia and skeletal deformity. Shortened and bowed long bones may be observed on prenatal ultrasound. Several patients have died due to respiratory failure. Suitable for fetal anomalies panel.
Created: 13 Jan 2022, 6:33 a.m. | Last Modified: 13 Jan 2022, 6:33 a.m.
Panel Version: 0.2024
Created: 13 Jan 2022, 6:33 a.m.
Last Modified: 13 Jan 2022, 6:33 a.m.
Panel version: Imported from Fetal anomalies panel version 0.2024

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Five unrelated families reported.
Sources: Other
Created: 9 Jan 2020, 10:47 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type XX, MIM# 618644

Publications

Created: 9 Jan 2020, 10:47 p.m.

Panel version: 0.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Osteogenesis imperfecta, type XX, MIM# 618644
OMIM
607783
Clinvar variants
Variants in MESD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MESD was added gene: MESD was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Other Mode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MESD were set to 31564437 Phenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX, MIM# 618644 Review for gene: MESD was set to GREEN