Amelogenesis imperfecta

Gene: MMP20

Green List (high evidence)

MMP20 (matrix metallopeptidase 20)
EnsemblGeneIds (GRCh38): ENSG00000137674
EnsemblGeneIds (GRCh37): ENSG00000137674
OMIM: 604629, Gene2Phenotype
MMP20 is in 1 panel

2 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Marked as ready: August 16th 2017. Green expert review and on Leeds diagnostic panel. Plus sufficient (>3) unrelated cases to support causation, although no disease currently curated in DD-G2P.
16 Aug 2017, 8:38 a.m.
Comment on mode of inheritance: Biallelic MOI supported by OMIM.
25 Jul 2017, 12:45 p.m.

Claire Smith (University of Leeds)

Green List (high evidence)

Currently on the Leeds AI diagnostic panel (Contact: Ruth Charlton). Associated with hypomaturation AI. Frameshift, missense and nonsense variants have been identified. These affect the hemopexin or catalytic peptidase domains. See MMP20 LOVD: http://dna2.leeds.ac.uk/LOVD/genes/MMP20
21 Jul 2017, 2:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amelogenesis imperfecta, type IIA2 612529

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Amelogenesis imperfecta, type IIA2, 612529
  • Amelogenesis Imperfecta, Hypomaturation Type, IIA2, 612529
  • Amelogenesis Imperfecta, Recessive
OMIM
604629
Clinvar variants
Variants in MMP20
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Feb 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been promoted after review by Claire Smith (Leeds) and further personal consultation with Dr Smith

19 Oct 2017, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for MMP20 were set to 28473773; 15744043; 18096894; 26502894; 23625376; 23355523; 16246936; 19966041; 26124219; 28659819

16 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

25 Jul 2017, Gel status: 3

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for MMP20 was changed to BIALLELIC, autosomal or pseudoautosomal

25 Jul 2017, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for MMP20 were set to Amelogenesis imperfecta, type IIA2, 612529; Amelogenesis Imperfecta, Hypomaturation Type, IIA2, 612529; Amelogenesis Imperfecta, Recessive

25 Jul 2017, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for MMP20 were set to 28473773; 15744043; 18096894; 26502894; 23625376; 23355523; 16246936; 19966041; 26124219

12 Jun 2017, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for MMP20 were set to 28473773

8 Jun 2017, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

MMP20 was added to Amelogenesis Imperfectapanel. Source: Illumina TruGenome Clinical Sequencing Services

8 Jun 2017, Gel status: 2

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

MMP20 was added to Amelogenesis Imperfectapanel. Source: UKGTN Model of inheritance for gene MMP20 was set to BIALLELIC, autosomal or pseudoautosomal

8 Jun 2017, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

MMP20 was added to Amelogenesis Imperfectapanel. Source: Radboud University Medical Center, Nijmegen

8 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

MMP20 was created by rfoulger

8 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

MMP20 was added to Amelogenesis Imperfectapanel. Sources: Eligibility statement prior genetic testing