Dilated cardiomyopathy - adult and teen

Gene: CSRP3

Amber List (moderate evidence)

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

7 reviews

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.
Created: 3 Dec 2019, 2:28 p.m. | Last Modified: 3 Dec 2019, 2:28 p.m.
Panel Version: 0.52

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

I don't know

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

Ellen McDonagh (Genomics England Curator)

I don't know

Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
Created: 24 Mar 2019, 10:17 a.m.
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.

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

Caroline Wright (Genomics England Curator)

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

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • UKGTN
  • South West GLH
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • ?Cardiomyopathy, dilated, 1M (607482)
  • Cardiomyopathy, dilated, 1M
  • Cardiomyopathy, hypertrophic, 12 (612124)
OMIM
600824
Clinvar variants
Variants in CSRP3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: csrp3 has been classified as Amber List (Moderate Evidence).

8 Mar 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: CSRP3 was added gene: CSRP3 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN Mode of inheritance for gene: CSRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CSRP3 were set to 18505755; 27532257 Phenotypes for gene: CSRP3 were set to ?Cardiomyopathy, dilated, 1M (607482); Cardiomyopathy, dilated, 1M; Cardiomyopathy, hypertrophic, 12 (612124)