Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: MMP21

MMP21 (matrix metallopeptidase 21)
EnsemblGeneIds (GRCh38): ENSG00000154485
EnsemblGeneIds (GRCh37): ENSG00000154485
OMIM: 608416, Gene2Phenotype
MMP21 is in 6 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

Compound heterozygous variants (c.671_684del/ p.Val224Glyfs*29 and c.775C>G/ p.His259Asp) were identified in an individual within the 100kGP with heterotaxy and craniosynostosis (PMID:34429528)
Sources: Literature
Created: 23 Jul 2023, 4:42 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 23 Jul 2023, 4:42 p.m.

Panel version: 4.142

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Literature

Phenotypes

craniosynostosis, MONDO:0015469

OMIM

608416

Clinvar variants

Variants in MMP21

Penetrance

None

Publications

Panels with this gene

History Filter Activity

23 Jul 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: MMP21 was added gene: MMP21 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: MMP21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMP21 were set to 34429528; 36980886 Phenotypes for gene: MMP21 were set to craniosynostosis, MONDO:0015469 Review for gene: MMP21 was set to RED

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: MMP21