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Amelogenesis imperfecta

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 12 Aug 2021, 11:49 p.m. | Last Modified: 12 Aug 2021, 11:49 p.m.
Panel Version: 0.33

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amelogenesis imperfecta, type IIA2, MIM# 612529

Publications

Created: 12 Aug 2021, 11:49 p.m.
Last Modified: 12 Aug 2021, 11:49 p.m.
Panel version: 0.33

Details

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

History Filter Activity

12 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MMP20 were changed from Amelogenesis Imperfecta, Hypomaturation Type, IIA2, 612529; Amelogenesis imperfecta, type IIA2, 612529; Amelogenesis Imperfecta, Recessive to Amelogenesis imperfecta, type IIA2, MIM# 612529

7 May 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MMP20 was added gene: MMP20 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: MMP20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMP20 were set to 23625376; 26124219; 28659819; 19966041; 26502894; 28473773; 23355523; 18096894; 16246936; 15744043 Phenotypes for gene: MMP20 were set to Amelogenesis Imperfecta, Hypomaturation Type, IIA2, 612529; Amelogenesis imperfecta, type IIA2, 612529; Amelogenesis Imperfecta, Recessive