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Skeletal dysplasia

Gene: MESD

Amber List (moderate evidence)

MESD (mesoderm development LRP chaperone)
EnsemblGeneIds (GRCh38): ENSG00000117899
EnsemblGeneIds (GRCh37): ENSG00000117899
OMIM: 607783, Gene2Phenotype
MESD is in 4 panels

3 reviews

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ostoegenesis Imperfecta; Fractures

Publications

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)

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
  • Literature
  • Expert Review Amber
Phenotypes
  • Osteogenesis imperfecta, type XX, OMIM:618644
  • Osteogenesis imperfecta, type 20, MONDO:0032846
Tags
Q3_21_rating
OMIM
607783
Clinvar variants
Variants in MESD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Sep 2021, Gel status: 2

Removed Tag, Added Tag

Eleanor Williams (Genomics England Curator)

Tag for-review was removed from gene: MESD. Tag Q3_21_rating tag was added to gene: MESD.

24 Sep 2021, Gel status: 2

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

Eleanor Williams (Genomics England Curator)

gene: MESD was added gene: MESD was added to Skeletal dysplasia. Sources: Expert Review Amber,Literature for-review tags were added to gene: MESD. 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, OMIM:618644; Osteogenesis imperfecta, type 20, MONDO:0032846