Osteogenesis imperfecta
Gene: MESDEnsemblGeneIds (GRCh38): ENSG00000117899
EnsemblGeneIds (GRCh37): ENSG00000117899
OMIM: 607783, Gene2Phenotype
MESD is in 4 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update.Created: 19 Oct 2020, 2:56 p.m. | Last Modified: 19 Oct 2020, 2:56 p.m.
Panel Version: 2.7
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 5 Mar 2022, 9:19 p.m. | Last Modified: 5 Mar 2022, 9:19 p.m.
Panel Version: 2.39
Further green review from NHS clinician, but already tagged for green rating in next GMS review.Created: 15 Sep 2021, 1:59 p.m. | Last Modified: 15 Sep 2021, 1:59 p.m.
Panel Version: 2.26
Comment on list classification: Changing rating from red to green. More than three families reported, with plausible disease causing variants.Created: 13 May 2020, 12:17 p.m. | Last Modified: 13 May 2020, 12:17 p.m.
Panel Version: 2.6
Gene suggested by Alistair Pagnamenta.
Associated with Osteogenesis imperfecta, type XX, #618644 (AR) in OMIM.
PMID: 31564437 Moosa et al 2019. Report 5 independent consanguineous families with a progressively deforming type of OI. Using WES and prioritising homozygous variants, they found all patients were homozygous for a mutation in the third and final exon of MESD. Parents were heterozygous. Variants were not common polymorphisms. 4 different truncation or frameshift variants were found. In mice, homozygous loss-of-function Mesd mutations cause embryonic lethality during gastrulation (PubMed: 11247670). In functional studies the MESD mutations produce hypomorphic alleles whose failure to remain within the ER significantly reduces but does not completely eliminate LRP5 and LRP6 trafficking.
Alistair Pagnamenta notes that there is a lack of sibling data.Created: 13 May 2020, 12:16 p.m. | Last Modified: 13 May 2020, 12:18 p.m.
Panel Version: 2.6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Osteogenesis imperfecta, type XX, OMIM:618644
- Osteogenesis imperfecta, type 20, MONDO:0032846
- OMIM
- 607783
- Clinvar variants
- Variants in MESD
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: MESD were set to 31564437
Removed Tag
Eleanor Williams (Genomics England Curator)Tag for-review was removed from gene: MESD.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to MESD. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MESD were changed from Osteogenesis imperfecta, type XX, 618644 to Osteogenesis imperfecta, type XX, OMIM:618644; Osteogenesis imperfecta, type 20, MONDO:0032846
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: mesd has been classified as Amber List (Moderate Evidence).
Added Tag
Eleanor Williams (Genomics England Curator)Tag for-review tag was added to gene: MESD.
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: mesd has been classified as Green List (High Evidence).
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: MESD were changed from to Osteogenesis imperfecta, type XX, 618644
Created, Added New Source, Set mode of inheritance, Set publications
Eleanor Williams (Genomics England Curator)gene: MESD was added gene: MESD was added to Osteogenesis imperfecta. Sources: Literature Mode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MESD were set to 31564437