Rhabdomyolysis and metabolic muscle disorders

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 2 panels

3 reviews

Eleanor Williams (Genomics England Curator)

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: 6 Jul 2021, 12:08 p.m. | Last Modified: 6 Jul 2021, 12:08 p.m.
Panel Version: 1.46

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Not associated with phenotype in OMIM or G2P. No variants reported to date, however, expert reviewer quoted unpublished observations and so this gene has now been tagged with the "watchlist" tag
Created: 4 Jan 2017, 1:23 p.m.

Ros Quinlivan (UCLH)

Red List (low evidence)

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
Tags
watchlist
OMIM
608616
Clinvar variants
Variants in OBSCN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Jan 2017, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

4 Jan 2017, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for OBSCN were set to 18477606

4 Jan 2017, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for OBSCN was changed to Unknown

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

4 Jan 2017, Gel status: 0

Created

Ros Quinlivan (UCLH)

OBSCN was created by Ros Quinlivan

4 Jan 2017, Gel status: 0

Added New Source

Ros Quinlivan (UCLH)

OBSCN was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Expert Review