Skeletal dysplasia
Gene: MGP
Comment on mode of inheritance: As there is sufficient evidence available (two unrelated cased and functional studies) for the association of monoallelic MGP variants with spondyloepiphyseal dysplasia, the MOI should be updated from 'BIALLELIC, autosomal or pseudoautosomal' to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS review.Created: 24 Jan 2024, 12:43 p.m. | Last Modified: 24 Jan 2024, 12:43 p.m.
Panel Version: 4.48
PMID:37923733 reported four individuals from two unrelated families with two different heterozygous MGP variants affecting Cys 19 residue (family 1: p.Cys19Phe; family 2: p.Cys19Tyr) and with previously undescribed spondyloepiphyseal dysplasia characterized by short stature with a short trunk, diffuse platyspondyly, midface retrusion, progressive epiphyseal anomalies and brachytelephalangism. In addition, functional evidence from heterozygous ‘knock-in’ mice expressing Cys19Phe MGP recapitulate most of the skeletal anomalies observed in the affected individuals.
Although phenotype caused by biallelic MGP variants are already reported in both OMIM (MIM #245150) and Gene2Phenotype, phenotype caused by monoallelic variants are not yet reported in either resources.Created: 24 Jan 2024, 12:36 p.m. | Last Modified: 24 Jan 2024, 12:40 p.m.
Panel Version: 4.45
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Keutel syndrome, OMIM:245150; spondyloepiphyseal dysplasia, MONDO:0016761
Publications
Chondrodysplasia punctata gp of SD - at least 3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Keutel syndrome 245150
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: MGP; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Numerous variants reported in this phenotypeCreated: 12 Jul 2016, 9:56 a.m.
Tier 1Created: 17 Jun 2016, 8:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Keutel syndrome (diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism) 245150
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene: MGP was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGP were changed from Keutel syndrome 245150; Keutel syndrome 245150 to Keutel syndrome, OMIM:245150; spondyloepiphyseal dysplasia, MONDO:0016761
Publications for gene: MGP were set to
Tag Q1_24_MOI tag was added to gene: MGP.
Added phenotypes Keutel syndrome 245150 for gene: MGP
Source NHS GMS was added to MGP. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for MGP were set to Keutel syndrome 245150
Mode of inheritance for MGP was changed to BIALLELIC, autosomal or pseudoautosomal
MGP was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
MGP was added to Unexplained skeletal dysplasiapanel. Sources:
MGP was created by sleigh