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  3. OBSCN
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Hypertrophic cardiomyopathy_HCM

Gene: OBSCN

Red List (low evidence)
OBSCN (obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF)
EnsemblGeneIds (GRCh38): ENSG00000154358
EnsemblGeneIds (GRCh37): ENSG00000154358
OMIM: 608616, Gene2Phenotype
OBSCN is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Additional evidence to question the pathogenicity of reported variants: PMID: 33438037 - Fukuzawa et al 2021 - look at protein–protein interactions and protein domain stability, using quantitative biochemical and biophysical approaches on the proposed pathogenic R4344Q variant which is found in 15% of African Americans, along with the previously reported R4444W variant. They find no evidence for a pathogenetic effect.
Created: 7 Jul 2021, 4:59 a.m. | Last Modified: 7 Jul 2021, 4:59 a.m.
Panel Version: 0.156

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypertrophic cardiomyopathy

Publications

Created: 7 Jul 2021, 4:59 a.m.
Last Modified: 7 Jul 2021, 4:59 a.m.
Panel version: 0.156

Paul De Fazio (Victorian Clinical Genetics Services)

Red List (low evidence)

Limited evidence by ClinGen working group.

Via ClinGen: 8 probands in 3 publications but only 3 probands from 1 publication were though to have pathogenic variants (others were excluded based on population frequency and expert review).

No additional case reports were found. A mouse model lends some support to the association of this gene with heart disease although not HCM specifically.
Sources: Literature
Created: 29 Jul 2020, 1:39 a.m.

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

Phenotypes
Hypertrophic cardiomyopathy

Publications

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

Created: 29 Jul 2020, 1:39 a.m.

Panel version: 0.111

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Hypertrophic cardiomyopathy
OMIM
608616
Clinvar variants
Variants in OBSCN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jul 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: OBSCN were set to 30681346; 26573135; 17716621; 25173926; 28630914

29 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Jul 2020, Gel status: 0

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

Paul De Fazio (Victorian Clinical Genetics Services)

gene: OBSCN was added gene: OBSCN was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature Mode of inheritance for gene: OBSCN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: OBSCN were set to 30681346; 26573135; 17716621; 25173926; 28630914 Phenotypes for gene: OBSCN were set to Hypertrophic cardiomyopathy Review for gene: OBSCN was set to RED gene: OBSCN was marked as current diagnostic