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  2. Osteogenesis Imperfecta and Osteoporosis
  3. MESD
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Osteogenesis Imperfecta and Osteoporosis

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Five unrelated families reported.
Sources: Other
Created: 9 Jan 2020, 10:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type XX, MIM# 618644

Publications

Created: 9 Jan 2020, 10:44 p.m.

Panel version: 0.1

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 Osteogenesis imperfecta_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