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Mendeliome

Gene: MYOZ2

Red List (low evidence)

MYOZ2 (myozenin 2)
EnsemblGeneIds (GRCh38): ENSG00000172399
EnsemblGeneIds (GRCh37): ENSG00000172399
OMIM: 605602, Gene2Phenotype
MYOZ2 is in 4 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Red List (low evidence)

Limited evidence by ClinGen working group.

Via ClinGen: Only one family (segregation in 5 members) has convincing association with disease. Other reports were either for variants that have population frequency suggesting benignity or in a proband where a variant in MYH7 was also found. Studies in mice of two of these variants showed that they developed cardiac hypertrophy with preserved systolic function.

A review of the literature finds no other reports.
Created: 29 Jul 2020, 6:20 a.m. | Last Modified: 29 Jul 2020, 6:20 a.m.
Panel Version: 0.3561

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cardiomyopathy, hypertrophic, 16 MIM#613838

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, hypertrophic, 16 MIM#613838
OMIM
605602
Clinvar variants
Variants in MYOZ2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: myoz2 has been classified as Red List (Low Evidence).

29 Jul 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYOZ2 were changed from to Cardiomyopathy, hypertrophic, 16 MIM#613838

29 Jul 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MYOZ2 were set to

29 Jul 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MYOZ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: myoz2 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYOZ2 was added gene: MYOZ2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MYOZ2 was set to Unknown