Amelogenesis imperfecta
Gene: MMP20Comment 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.
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/MMP20Created: 21 Jul 2017, 2:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Amelogenesis imperfecta, type IIA2 612529
Publications
This panel has been promoted after review by Claire Smith (Leeds) and further personal consultation with Dr Smith
Publications for MMP20 were set to 28473773; 15744043; 18096894; 26502894; 23625376; 23355523; 16246936; 19966041; 26124219; 28659819
This gene has been classified as Green List (High Evidence).
Mode of inheritance for MMP20 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for MMP20 were set to Amelogenesis imperfecta, type IIA2, 612529; Amelogenesis Imperfecta, Hypomaturation Type, IIA2, 612529; Amelogenesis Imperfecta, Recessive
Publications for MMP20 were set to 28473773; 15744043; 18096894; 26502894; 23625376; 23355523; 16246936; 19966041; 26124219
Publications for MMP20 were set to 28473773
MMP20 was added to Amelogenesis Imperfectapanel. Source: Illumina TruGenome Clinical Sequencing Services
MMP20 was added to Amelogenesis Imperfectapanel. Source: UKGTN Model of inheritance for gene MMP20 was set to BIALLELIC, autosomal or pseudoautosomal
MMP20 was added to Amelogenesis Imperfectapanel. Source: Radboud University Medical Center, Nijmegen
MMP20 was added to Amelogenesis Imperfectapanel. Sources: Eligibility statement prior genetic testing
MMP20 was created by rfoulger