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  3. CSRP3
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Dilated Cardiomyopathy and conduction defects

Gene: CSRP3

Green List (high evidence)
CSRP3 (cysteine and glycine rich protein 3)
EnsemblGeneIds (GRCh38): ENSG00000129170
EnsemblGeneIds (GRCh37): ENSG00000129170
OMIM: 600824, Gene2Phenotype
CSRP3 is in 6 panels

5 reviews

Rebecca Whittington (South West GLH)

I don't know

OMIM#607482 ?Cardiomyopathy, dilated, 1M; OMIM#612124 Cardiomyopathy, hypertrophic, 12
Created: 25 Mar 2019, 4:30 p.m.
7 variants on HGMD only two DM. In reviews: Dalin 2017 International Journal of Cardiology 228 (2017) 742748 - no variants detected, Hershberger 2013 Nat Rev Cardiol 10:531.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Created: 25 Mar 2019, 4:24 p.m.

Panel version: 1.55

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: 1.46

James Eden (Manchester)

Red List (low evidence)

Gene currently tested on Manchester cardiac gene panel. 33 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: no stated association with DCM, moderate association with HCM 12 (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.

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

Phenotypes
?Cardiomyopathy, dilated, 1M (607482); Cardiomyopathy, hypertrophic, 12 (612124)

Publications

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

Created: 14 Feb 2019, 1:38 p.m.

Panel version: 1.44

Caroline Wright (Genomics England Curator)

Comment when marking as ready: On Manchester diagnostic panel
Created: 14 Feb 2016, 4:13 p.m.
Created: 14 Feb 2016, 4:13 p.m.

Panel version: 0.2

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

Created: 6 Jan 2016, 5:12 p.m.

Panel version: 0.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, dilated, 1M
  • Cardiomyopathy, hypertrophic, 12 (612124)
  • ?Cardiomyopathy, dilated, 1M (607482)
OMIM
600824
Clinvar variants
Variants in CSRP3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 4

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to CSRP3. Mode of inheritance for gene CSRP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to CSRP3.

14 Feb 2019, Gel status: 3

Added New Source, Set Phenotypes, Set publications, Status Update

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to CSRP3. Added phenotypes Cardiomyopathy, hypertrophic, 12 (612124); ?Cardiomyopathy, dilated, 1M (607482) for gene: CSRP3 Publications for gene CSRP3 were changed from to 27532257; 18505755 Rating Changed from Green List (high evidence) to Green List (high evidence)

14 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CSRP3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

14 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

CSRP3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,UKGTN

14 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CSRP3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

14 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

CSRP3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,UKGTN

14 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CSRP3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

14 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CSRP3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,UKGTN

14 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CSRP3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

14 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CSRP3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,UKGTN

14 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CSRP3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,UKGTN