Laterality disorders and isomerismGene: MMP21
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
OMIM Heterotaxy, visceral, 7, autosomal
Variants in this GENE are reported as part of current diagnostic practice
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.
Phenotypes for gene: MMP21 were changed from to Heterotaxy, visceral, 7, autosomal, 616749
Publications for gene: MMP21 were set to 26437028
Mode of inheritance for gene: MMP21 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMP21 were set to
Source Expert Review Green was added to MMP21. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: MMP21 was added gene: MMP21 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: MMP21 was set to