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BabyScreen+ newborn screening

Gene: MGP

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Keutel syndrome, MIM #245150

Created: 6 Oct 2022, 12:12 a.m.
Last Modified: 6 Oct 2022, 12:12 a.m.
Panel version: 0.329

David Amor (Murdoch Children's Research Institute)

Red List (low evidence)

Gene-disease association: strong, but super rare condition (1 in 1,000,000). Keutel syndrome is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses, brachytelephalangy, inner ear deafness, and abnormal cartilage ossification or calcification

Severity: moderate

Age of onset: congenital

Treatment: symptomatic only therefore exclude (even though includes deafness)
Created: 29 Sep 2022, 11:54 p.m. | Last Modified: 29 Sep 2022, 11:54 p.m.
Panel Version: 0.270

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Keutel syndrome

Created: 29 Sep 2022, 11:54 p.m.
Last Modified: 29 Sep 2022, 11:54 p.m.
Panel version: 0.270

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Keutel syndrome, MIM #245150
OMIM
154870
Clinvar variants
Variants in MGP
Penetrance
None
Panels with this gene

History Filter Activity

6 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mgp has been classified as Red List (Low Evidence).

6 Oct 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MGP were changed from Keutel syndrome to Keutel syndrome, MIM #245150

6 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mgp has been classified as Red List (Low Evidence).

18 Sep 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 gNBS. Sources: BabySeq Category A gene,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