Amelogenesis imperfecta
Gene: MMP20

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.
Created: 16 Aug 2017, 8:38 a.m.

Comment on mode of inheritance: Biallelic MOI supported by OMIM.
Created: 25 Jul 2017, 12:45 p.m.

Created: 25 Jul 2017, 12:45 p.m.

Panel version: 0.54

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
Created: 21 Jul 2017, 2:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amelogenesis imperfecta, type IIA2 612529

Publications

Created: 21 Jul 2017, 2:32 p.m.

Panel version: 0.42

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

Amelogenesis imperfecta

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