Genes in panel
STRs in panel
Prev Next

Cardiomyopathies - including childhood onset

Gene: MIB1

Green List (high evidence)

MIB1 (mindbomb E3 ubiquitin protein ligase 1)
EnsemblGeneIds (GRCh38): ENSG00000101752
EnsemblGeneIds (GRCh37): ENSG00000101752
OMIM: 608677, Gene2Phenotype
MIB1 is in 4 panels

3 reviews

Zornitza Stark (Australian Genomics)

I don't know

Variants in PMID 23314057 have a relatively high population frequency in gnomad, out of keeping for a Mendelian disorder.

Evidence for gene-disease association seems to be mostly experimental rather than human. From ClinGen curation:

The MIB1 mRNA and protein are expressed in the heart (Jin et al, 2002, PMID: 12351649). In the mouse Luxán G et al used in situ hybridization to show that Mib1 is expressed in mouse endocardium and myocardium at embryonic day 9.5 (Luxan et al,2013, PMID: 23314057). Two cardiac specific Mib1 knock-out mouse models both had dilated heart with a thin compact myocardium and large, noncompacted trabeculae protruding toward the ventricular lumen. For the first model Nkx2.5-cre mice were used to knock out the Mib1flox/flox allele. In these mice cre is active in the endocardium and myocardium from E7.5 onward and they died at birth from valve dysfunction. For the second model cTnT-cre (also known as Tnnt2-cre) mice were used. In these mice cre is active from E8.0 onward in the myocardium. In addition, Mib1flox; cTnT-cre mice survive but showed a dilated heart with noncompaction and a significantly reduced ejection fraction (Luxan et al, 2013, PMID: 23314057, Captur et al, 2016, PMID: 27020702).
Created: 26 Mar 2021, 9:41 a.m. | Last Modified: 26 Mar 2021, 9:41 a.m.
Panel Version: 1.19

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Left ventricular noncompaction 7, MIM# 615092; cardiomyopathy

Publications

Ivone Leong (Genomics England Curator)

Green List (high evidence)

This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. This gene has been tagged and will be submitted to the GMS specialist group for review.
Created: 16 Apr 2021, 8:11 a.m. | Last Modified: 16 Apr 2021, 8:11 a.m.
Panel Version: 1.24
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Rebecca Whittington (South West GLH)

Green List (high evidence)

Left ventricular noncompaction 7 OMIM#615092
Created: 25 Mar 2019, 4:30 p.m.
HGMD variable phenotypes including intellectual disability.7 DM variants on HGMD - all but 1 are LVNC. Luxan Nature Med. 19: 193-201, 2013.PubMed: 23314057. Reported two families with a missense and nonsense variant tracking with LVNC. Functional studies undertaken showed reduction in NOTCH1 activity and zebra fish embryos were also created with the variants and found some deterimental effects. Note the earliest age of onset was 14 years reported so borderline paediatric to teen onset.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • South West GLH
  • London South GLH
  • Expert Review Green
Phenotypes
  • Left ventricular noncompaction 7, OMIM:615092
Tags
Q2_21_rating Q2_21_NHS_review
OMIM
608677
Clinvar variants
Variants in MIB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Apr 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MIB1 were changed from Left ventricular noncompaction 7 to Left ventricular noncompaction 7, OMIM:615092

16 Apr 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MIB1 were set to

16 Apr 2021, Gel status: 3

Added Tag, Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: MIB1. Tag Q2_21_NHS_review tag was added to gene: MIB1.

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MIB1.

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: MIB1 was added gene: MIB1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH Mode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MIB1 were set to Left ventricular noncompaction 7