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  3. OBSCN
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Acute rhabdomyolysis

Gene: OBSCN

Green List (high evidence)
OBSCN (obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF)
EnsemblGeneIds (GRCh38): ENSG00000154358
EnsemblGeneIds (GRCh37): ENSG00000154358
OMIM: 608616, Gene2Phenotype
OBSCN is in 2 panels

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Created: 16 Feb 2022, 2:32 p.m. | Last Modified: 16 Feb 2022, 2:32 p.m.
Panel Version: 0.6
Created: 16 Feb 2022, 2:32 p.m.
Last Modified: 16 Feb 2022, 2:32 p.m.
Panel version: 0.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • {Rhabdomyolysis, susceptibility to, 1}, OMIM:620235
OMIM
608616
Clinvar variants
Variants in OBSCN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Oct 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: OBSCN were changed from Rhabdomyolysis, myopathy to {Rhabdomyolysis, susceptibility to, 1}, OMIM:620235

16 Oct 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked was removed from gene: OBSCN.

10 May 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: OBSCN.

19 Jan 2022, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: OBSCN was added gene: OBSCN was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: OBSCN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OBSCN were set to 34957489 Phenotypes for gene: OBSCN were set to Rhabdomyolysis, myopathy