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Mendeliome

Gene: MMP20

Green List (high evidence)

MMP20 (matrix metallopeptidase 20)
EnsemblGeneIds (GRCh38): ENSG00000137674
EnsemblGeneIds (GRCh37): ENSG00000137674
OMIM: 604629, Gene2Phenotype
MMP20 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 10 unrelated families reported with biallelic variants.
Created: 9 Apr 2021, 4:03 a.m. | Last Modified: 9 Apr 2021, 4:03 a.m.
Panel Version: 0.7081

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amelogenesis imperfecta, type IIA2 MIM#612529

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Amelogenesis imperfecta, type IIA2 MIM#612529
OMIM
604629
Clinvar variants
Variants in MMP20
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mmp20 has been classified as Green List (High Evidence).

9 Apr 2021, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: MMP20 were changed from to Amelogenesis imperfecta, type IIA2 MIM#612529

9 Apr 2021, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: MMP20 were set to

9 Apr 2021, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: MMP20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MMP20 was added gene: MMP20 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MMP20 was set to Unknown