Limb girdle muscular dystrophy

Gene: CASQ1

Amber List (moderate evidence)

CASQ1 (calsequestrin 1)
EnsemblGeneIds (GRCh38): ENSG00000143318
EnsemblGeneIds (GRCh37): ENSG00000143318
OMIM: 114250, Gene2Phenotype
CASQ1 is in 3 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from Red to Amber due to expert review, however only one missense variants seems to have been reported in this gene. Awaiting further clinical input for this to be Green.
Created: 28 Nov 2019, 5:16 p.m. | Last Modified: 28 Nov 2019, 5:16 p.m.
Panel Version: 1.161

Chiara Marini Bettolo (NUTH)

Green List (high evidence)

new gene added Currently provided as part of our LGMD panel at HSS LGMD in Ncl.
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97

Louise Daugherty (Genomics England Curator)

I don't know

New gene requested to be added to panel by Chiara Marini Bettolo (NUTH) on behalf of Yorkshire North East
Sources: Expert Review
Created: 21 Oct 2019, 11:02 a.m.

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

Phenotypes
Myopathy, vacuolar, with CASQ1 aggregates, 616231

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review
Phenotypes
  • Myopathy, vacuolar, with CASQ1 aggregates, 616231
OMIM
114250
Clinvar variants
Variants in CASQ1
Penetrance
None
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: casq1 has been classified as Amber List (Moderate Evidence).

21 Oct 2019, Gel status: 1

Added New Source, Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CASQ1. Source Yorkshire and North East GLH was added to CASQ1.

21 Oct 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: CASQ1 was added gene: CASQ1 was added to Limb girdle muscular dystrophy. Sources: Expert Review 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, 616231 Review for gene: CASQ1 was set to AMBER