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Fetal anomalies

Gene: SPRED2

Amber List (moderate evidence)
SPRED2 (sprouty related EVH1 domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000198369
EnsemblGeneIds (GRCh37): ENSG00000198369
OMIM: 609292, Gene2Phenotype
SPRED2 is in 7 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Samantha Doyle (The National Maternity Hospital)

I don't know

On PanelApp: Familial non-syndromic congenital heart disease panel, DDG2P, Growth failure in early childhood, Intellectual disability, Rasopathy panel, paediatric or syndromic cardiomyopathy and part of unexplained death in infancy super panel. Autosomal recessive. PMID:34626534 - This paper describes cases with bi-allelic variants on SPRED2. The cardiac findings described include Pulmonary valve stenosis, ASD and HCM. Of the 4 cases, no lymphatic involvement. PMID:36394128 - 2022 paper, in this, 4 patients are described with SPRED2 Noonan's and they have CHD- 2/4 have PS, 1/4 has ASD, 2/4 HCM. It appears this is the same 4 cases. This could present prenatally with CHD and given that it is on the rasopathy panel green. Amber - would not qualify for R21 with current evidence of prenatal phenotype. ? rasopathy specific prenatal panel.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Noonan syndrome 14, OMIM:619745

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Noonan syndrome 14, OMIM:619745
OMIM
609292
Clinvar variants
Variants in SPRED2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SPRED2 was added gene: SPRED2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPRED2 were set to 34626534; 36394128 Phenotypes for gene: SPRED2 were set to Noonan syndrome 14, OMIM:619745