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Prepair 1000+

Gene: MGP

Green List (high evidence)

MGP (matrix Gla protein)
EnsemblGeneIds (GRCh38): ENSG00000111341
EnsemblGeneIds (GRCh37): ENSG00000111341
OMIM: 154870, Gene2Phenotype
MGP is in 9 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Keutel syndrome is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses, brachytelephalangy, inner ear deafness, and abnormal cartilage ossification or calcification. Skeletal changes and cartilage ossification may be visible on fetal ultrasound.

Multiple families, mouse model.

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: 21 Nov 2024, 2:57 a.m. | Last Modified: 21 Nov 2024, 2:57 a.m.
Panel Version: 1.579

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Keutel syndrome MIM#245150

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Keutel syndrome, 245150 (3)
OMIM
154870
Clinvar variants
Variants in MGP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: mgp has been classified as Green List (High Evidence).

28 Nov 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: MGP were set to

1 Jun 2022, Gel status: 3

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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MGP were set to Keutel syndrome, 245150 (3)