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Skeletal dysplasia

Gene: MMP14

Red List (low evidence)

MMP14 (matrix metallopeptidase 14)
EnsemblGeneIds (GRCh38): ENSG00000157227
EnsemblGeneIds (GRCh37): ENSG00000157227
OMIM: 600754, Gene2Phenotype
MMP14 is in 2 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Only one variant reported
Created: 29 Jul 2016, 7:45 a.m.
Comment on list classification: Only one variant identified for this phenotype
Created: 11 Jul 2016, 8:17 a.m.
Comment on list classification: Based on the use of MMP14 diagnotisically, but only one variant reported
Created: 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.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Winchester syndrome 277950
OMIM
600754
Clinvar variants
Variants in MMP14
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

29 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

11 Jul 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for MMP14 was changed to BIALLELIC, autosomal or pseudoautosomal

11 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

11 Jul 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for MMP14 were set to 22922033

8 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for MMP14 was changed to Unknown

8 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

8 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for MMP14 were set to Winchester syndrome 277950

21 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

MMP14 was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

MMP14 was created by sleigh