GMS Respiratory specialist test group Laterality disorders and isomerism
Gene: MMP21EnsemblGeneIds (GRCh38): ENSG00000154485
EnsemblGeneIds (GRCh37): ENSG00000154485
OMIM: 608416, Gene2Phenotype
MMP21 is in 6 panels
1 review
Louise Daugherty (Genomics England Curator)
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: MMP21; Suggested intial gene rating: Green; Evidence for inclusion: OMIM PCD or Visceral heterotaxy gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 26 Nov 2018, 2:25 p.m.
Details
- Sources
-
- Expert Review Green
- NHS GMS
- OMIM
- 608416
- Clinvar variants
- Variants in MMP21
- Penetrance
- None
- Panels with this gene
History Filter Activity
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to MMP21. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: MMP21 was added gene: MMP21 was added to GMS Respiratory specialist test group Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: MMP21 was set to