Laterality disorders and isomerism

Gene: MMP21

Green List (high evidence)

On CGGL Royal Brompton panel. Good literature evidence

Created: 25 Nov 2019, 11:10 p.m. | Last Modified: 25 Nov 2019, 11:10 p.m.

Panel Version: 0.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM Heterotaxy, visceral, 7, autosomal

Publications

• 26437028
• 26429889

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

From Panel Familial non syndromic congenital heart disease. 4 Jul 2017, 7:24 a.m. Panel version: 1.8. Review by Helen Brittain (Genomics England Curator). Green List (high evidence). Comment when marking as ready: Sufficient evidence for causation of heterotaxy phenotype. Sufficient cases (9 in listed PMID) of heterotaxy / cardiac laterality defects. Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal. Phenotypes: Heterotaxy, visceral, 7, autosomal, 616749. Publications 26437028.

Created: 17 Jan 2019, 1:57 p.m.

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 initial 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 given

Created: 5 Dec 2018, 12:52 p.m.