Skeletal dysplasia
Gene: MMP14Comment when marking as ready: Associated with phenotype in OMIM and G2P. Only one variant reportedCreated: 29 Jul 2016, 7:45 a.m.
Comment on list classification: Only one variant identified for this phenotypeCreated: 11 Jul 2016, 8:17 a.m.
Comment on list classification: Based on the use of MMP14 diagnotisically, but only one variant reportedCreated: 8 Jul 2016, 7:17 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:58 p.m.
Tier 1Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
Unknown
Phenotypes
Winchester syndrome 277950
Variants in this GENE are reported as part of current diagnostic practice
Promoted to version 1 9th August 2016
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for MMP14 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
Publications for MMP14 were set to 22922033
Mode of inheritance for MMP14 was changed to Unknown
This gene has been classified as Green List (High Evidence).
Phenotypes for MMP14 were set to Winchester syndrome 277950
This gene has been classified as Green List (High Evidence).
MMP14 was added to Unexplained skeletal dysplasiapanel. Sources:
MMP14 was created by sleigh