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DDG2P

Gene: MESD

Amber List (moderate evidence)

MESD (mesoderm development LRP chaperone)
EnsemblGeneIds (GRCh38): ENSG00000117899
EnsemblGeneIds (GRCh37): ENSG00000117899
OMIM: 607783, Gene2Phenotype
MESD is in 2 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P October 2019: OSTEOGENESIS IMPERFECTA. G2P Allelic requirement: biallelic. G2P Mutation consequence: loss of function. G2P Disease confidence rating: probable.
Created: 26 Nov 2019, 12:02 p.m. | Last Modified: 26 Nov 2019, 12:02 p.m.
Panel Version: 1.152

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • DD-Gene2Phenotype
Phenotypes
  • OSTEOGENESIS IMPERFECTA
OMIM
607783
Clinvar variants
Variants in MESD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Nov 2019, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: MESD was added gene: MESD was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber 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