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  2. Skeletal Muscle Channelopathies
  3. CASQ1
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Skeletal Muscle Channelopathies

Gene: CASQ1

Red List (low evidence)
CASQ1 (calsequestrin 1)
EnsemblGeneIds (GRCh38): ENSG00000143318
EnsemblGeneIds (GRCh37): ENSG00000143318
OMIM: 114250, Gene2Phenotype
CASQ1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Gene encodes a Ca++ binding protein rather than a channel.
Created: 20 Aug 2020, 8:49 a.m. | Last Modified: 20 Aug 2020, 8:49 a.m.
Panel Version: 0.9

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myopathy, vacuolar, with CASQ1 aggregates, MIM# 616231

Created: 20 Aug 2020, 8:49 a.m.
Last Modified: 20 Aug 2020, 8:49 a.m.
Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Myopathy, vacuolar, with CASQ1 aggregates, MIM# 616231
OMIM
114250
Clinvar variants
Variants in CASQ1
Penetrance
None
Panels with this gene

History Filter Activity

20 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: casq1 has been classified as Red List (Low Evidence).

20 Aug 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CASQ1 were changed from Myopathy, vacuolar, with casq1 aggregates to Myopathy, vacuolar, with CASQ1 aggregates, MIM# 616231

20 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: casq1 has been classified as Red List (Low Evidence).

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CASQ1 was added gene: CASQ1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CASQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CASQ1 were set to Myopathy, vacuolar, with casq1 aggregates