Skeletal dysplasia
Gene: MGPEnsemblGeneIds (GRCh38): ENSG00000111341
EnsemblGeneIds (GRCh37): ENSG00000111341
OMIM: 154870, Gene2Phenotype
MGP is in 9 panels
2 reviews
Andrew Fennell (Monash Genetics)
Four individuals from two unrelated families with two heterozygous variants in MGP, both altering the cysteine 19 residue to phenylalanine (C19F) or tyrosine (C19Y):
Family 1 (NM_000900.3:c.56G>T:p.C19F) - affected parent and two affected children harbour the variant. Third unaffected child does not harbour the variant.
Family 2 (NM_000900.3:c.56G>A:p.C19Y) - de novo variant in affected proband.
Phenotype of spondyloepiphyseal skeletal dysplasia characterized by short stature with a short trunk, diffuse platyspondyly, midface retrusion, progressive epiphyseal anomalies and brachytelephalangism.
Functional evidence to support hypothesis - heterozygous ‘knock-in’ mice expressing C19F MGP recapitulate most of the skeletal anomalies observed in the affected individuals.Created: 7 Dec 2023, 1:21 a.m. | Last Modified: 7 Dec 2023, 1:21 a.m.
Panel Version: 0.256
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
- PMID: 37923733
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Keutel syndrome is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses, brachytelephalangy, inner ear deafness, and abnormal cartilage ossification or calcification.
Multiple families, mouse model.Created: 28 Jan 2022, 4:35 a.m. | Last Modified: 28 Jan 2022, 4:35 a.m.
Panel Version: 0.10809
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Keutel syndrome, MIM #245150
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- NHS GMS
- Expert list
- Emory Genetics Laboratory
- Victorian Clinical Genetics Services
- Phenotypes
-
- Keutel syndrome 245150
- skeletal dysplasia MONDO:0018230, MGP-related
- OMIM
- 154870
- Clinvar variants
- Variants in MGP
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mgp has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MGP were changed from Keutel syndrome 245150; Keutel syndrome 245150 to Keutel syndrome 245150; skeletal dysplasia MONDO:0018230, MGP-related
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: MGP was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MGP was added gene: MGP was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MGP were set to Keutel syndrome 245150; Keutel syndrome 245150