MMP13:Ensemblv90

matrix metallopeptidase 13
OMIM: 600108, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Red MMP13 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.244	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Phenotypes Metaphyseal anadysplasia 1 (MIM#602111)
Green MMP13 in Mendeliome Version 1.3802	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Metaphyseal anadysplasia 1 (MIM#602111) Metaphyseal dysplasia, Spahr type (MIM#250400) ?Spondyloepimetaphyseal dysplasia, Missouri type (MIM#602111)
Green MMP13 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.365	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green NHS GMS Phenotypes Metaphyseal anadysplasia 1 602111 Spondyloepimetaphyseal dysplasia, Missouri type 602111 Metaphyseal dysplasia, Spahr type - 250400
Green MMP13 in Metaphyseal dysplasias Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.5	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Metaphyseal anadysplasia 1 602111 Spondyloepimetaphyseal dysplasia, Missouri type 602111 Metaphyseal dysplasia, Spahr type - 250400
Red MMP13 in Fetal anomalies Version 1.482	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Metaphyseal anadysplasia 1 (MIM#602111) Metaphyseal dysplasia, Spahr type (MIM#250400)
Red MMP13 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Expert Review Red Phenotypes Metaphyseal anadysplasia 1 (MIM#602111)
Green MMP13 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Metaphyseal anadysplasia 1 602111 Spondyloepimetaphyseal dysplasia, Missouri type 602111 Metaphyseal dysplasia, Spahr type - 250400
Green MMP13 in Metaphyseal dysplasias Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Metaphyseal anadysplasia 1 602111 Spondyloepimetaphyseal dysplasia, Missouri type 602111 Metaphyseal dysplasia, Spahr type - 250400