Genes in panel
STRs in panel
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Paediatric or syndromic cardiomyopathy

Gene: SPRED1

Red List (low evidence)

SPRED1 (sprouty related EVH1 domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000166068
EnsemblGeneIds (GRCh37): ENSG00000166068
OMIM: 609291, Gene2Phenotype
SPRED1 is in 14 panels

4 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

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

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

Red List (low evidence)

Legius syndrome has some similarites to neurofibromatosis, but no evidence for cardaic involvement, therefore not apprpriate for this panel
Created: 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

Legius syndrome

Ellen McDonagh (Genomics England Curator)

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.

Helen Savage (Congenica Ltd)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Legius Syndrome

History Filter Activity

2 Dec 2019, Gel status: 1

Added New Source, Added New Source, Status Update

Ivone Leong (Genomics England Curator)

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)

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

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