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Fetal anomalies

Gene: MMP9

Amber List (moderate evidence)
MMP9 (matrix metallopeptidase 9)
EnsemblGeneIds (GRCh38): ENSG00000100985
EnsemblGeneIds (GRCh37): ENSG00000100985
OMIM: 120361, Gene2Phenotype
MMP9 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Relatively mild skeletal dysplasia, unsure if it would be apparent antenatally.
Created: 2 Dec 2021, 5:08 a.m. | Last Modified: 2 Dec 2021, 5:08 a.m.
Panel Version: 0.886

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Metaphyseal anadysplasia 2 - MIM# 613073

Created: 2 Dec 2021, 5:08 a.m.
Last Modified: 2 Dec 2021, 5:08 a.m.
Panel version: 0.886

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic variants in MMP9 associated with autosomal recessive, metaphyseal anadysplasia type 2. Usually associated with a milder phenotype characterised by normal birth length, transitory bowing of the legs, spontaneous regression and disappearance of metaphyseal alterations during adolescence. Phenotype of MAD type 2 cases secondary to biallelic MMP13 gene mutations (more reported cases associated with this gene) similar to MMP9 associated cases.

MMP9-associated MAD type 2 cases reported so far:

x2 sibs from 1 consanguineous Pakistani family diagnosed postnatally with normal stature, genu varum, metaphyseal fraying during infancy (PMID 19615667)

x1 child from consanguineous family with homozygous nonsense variants diagnosed age 19 months with improvement of skeletal manifestations over a short period and by an early age (PMID 34407464)

x2 siblings from x1 non-consanguineous Jewish Caucasian family reported with more severe phenotype than other previously reported cases for MAD type 2 (PMID 28342220). Both siblings diagnosed during 2nd trimester with shortening of long bones. x1 fetus terminated at 19 weeks gestation - dysmorphic face including micrognathia, flattened nose, hypertelorism, short neck and hypoplastic lungs. 2nd liveborn female - reduced body length at birth (-4 SD), facial dysmorphism, cleft palate, anteriorly placed anus and other anomalies. No radiographic metaphyseal anomalies. Both children identified as having the same homozygous MMP9 missense variants. Authors acknowledge the phenotype is more severe than other previously reported cases of MAD type 2 associated with MMP9 or MMP13 gene variants. Some dispute regarding this prenatal case as detailed by PMID 34407464 such as possibility of an alternative skeletal dysplasia diagnosis (Desbuquois dypslasia type 2) and presence of 5 homozygotes in gnomad with the same missense variants - ?founder mutation.

Borderline amber-green gene in the prenatal setting based on current evidence.
Sources: Expert list, Literature
Created: 2 Dec 2021, 1:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Metaphyseal anadysplasia 2 - MIM# 613073

Publications

Created: 2 Dec 2021, 1:11 a.m.

Panel version: 0.886

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Expert list
Phenotypes
  • Metaphyseal anadysplasia 2 - MIM# 613073
OMIM
120361
Clinvar variants
Variants in MMP9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mmp9 has been classified as Amber List (Moderate Evidence).

2 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mmp9 has been classified as Amber List (Moderate Evidence).

2 Dec 2021, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: MMP9 was added gene: MMP9 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: MMP9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMP9 were set to 19615667; 28342220; 34407464 Phenotypes for gene: MMP9 were set to Metaphyseal anadysplasia 2 - MIM# 613073 Review for gene: MMP9 was set to GREEN