Paediatric or syndromic cardiomyopathy
Gene: CSRP3
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
OMIM#607482 ?Cardiomyopathy, dilated, 1M; OMIM#612124 Cardiomyopathy, hypertrophic, 12Created: 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
Gene: csrp3 has been classified as Green List (High Evidence).
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)
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