Paediatric or syndromic cardiomyopathy
Gene: SPRED1
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Legius syndrome has some similarites to neurofibromatosis, but no evidence for cardaic involvement, therefore not apprpriate for this panelCreated: 26 Nov 2019, 5:36 p.m. | Last Modified: 26 Nov 2019, 5:36 p.m.
Panel Version: 0.13
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Legius syndrome
Comment on list classification: Comment from Reviewer: Loss of function mutations in SPRED1 cause Legius syndrome. No strong associations with Noonan syndrome or other 'RASopathies'. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 4:22 p.m.Created: 5 Feb 2016, 12:51 p.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM, and not on imprinted gene list.Created: 5 Feb 2016, 8:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Legius Syndrome
Source Expert Review Red was added to SPRED1. Source NHS GMS was added to SPRED1. Rating Changed from Green List (high evidence) to Red List (low evidence)
gene: SPRED1 was added gene: SPRED1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,Expert List Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPRED1 were set to 19366998; 19443465; 21649642; 21548021; 17704776 Phenotypes for gene: SPRED1 were set to Legius syndrome 611431