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  2. Paediatric or syndromic cardiomyopathy
  3. CSRP3
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Paediatric or syndromic cardiomyopathy

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

2 reviews

Ivone Leong (Genomics England Curator)

I don't know

Comment on list classification: Promoted from Amber to Green. Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 9 Dec 2019, 2:59 p.m. | Last Modified: 9 Dec 2019, 2:59 p.m.
Panel Version: 0.57
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Created: 2 Dec 2019, 3:58 p.m.
Last Modified: 2 Dec 2019, 3:58 p.m.
Panel version: 0.16

Rebecca Whittington (South West GLH)

Red List (low evidence)

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: Imported from Previous cardiomyopathies - including childhood onset panel version 1.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 12
  • Cardiomyopathy, dilated, 1M
OMIM
600824
Clinvar variants
Variants in CSRP3
Penetrance
None
Panels with this gene

History Filter Activity

9 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: csrp3 has been classified as Green List (High Evidence).

2 Dec 2019, Gel status: 2

Added New Source, Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CSRP3. Source Expert Review Amber was added to CSRP3. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: CSRP3 was added gene: CSRP3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: CSRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CSRP3 were set to Cardiomyopathy, familial hypertrophic, 12; Cardiomyopathy, dilated, 1M