This Panel is marked as Internal
Coarse facial features including Coffin-Siris-like disorders
Gene: MMP14
MMP14 (matrix metallopeptidase 14)
EnsemblGeneIds (GRCh38): ENSG00000157227
EnsemblGeneIds (GRCh37): ENSG00000157227
OMIM: 600754, Gene2Phenotype
MMP14 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000157227
EnsemblGeneIds (GRCh37): ENSG00000157227
OMIM: 600754, Gene2Phenotype
MMP14 is in 2 panels
2 reviews
Alice Gardham (Genomics England)
Comment when marking as ready: Mutations only found in one family. Most likey to present with osteolysis in the hands and feet, generalized osteoporosis and bone thinning, nodulosis, and arthropathyCreated: 23 Nov 2016, 10:55 a.m.
Alice Gardham (North West Thames Genetics)
Mutations only found in one patientCreated: 7 Feb 2016, 1:49 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Winchester syndrome 277950
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Winchester syndrome 27790
- OMIM
- 600754
- Clinvar variants
- Variants in MMP14
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
23 Nov 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
14 Nov 2016, Gel status: 0
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
7 Feb 2016, Gel status: 0
Created
Alice Gardham (North West Thames Genetics)MMP14 was created by alicegardham
7 Feb 2016, Gel status: 0
Added New Source
Alice Gardham (North West Thames Genetics)MMP14 was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Literature