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Paediatric or syndromic cardiomyopathy

Gene: SPRED2

Green List (high evidence)

SPRED2 (sprouty related EVH1 domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000198369
EnsemblGeneIds (GRCh37): ENSG00000198369
OMIM: 609292, Gene2Phenotype
SPRED2 is in 6 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 11:53 a.m. | Last Modified: 30 Jan 2023, 11:53 a.m.
Panel Version: 2.6

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in Gene2Phenotype (Strong) but not in OMIM. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 24 Jan 2022, 9:07 a.m. | Last Modified: 24 Jan 2022, 9:07 a.m.
Panel Version: 3.1496
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in Gene2Phenotype (Strong) but not in OMIM. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 24 Jan 2022, 9:06 a.m. | Last Modified: 24 Jan 2022, 9:06 a.m.
Panel Version: 3.1496

Zornitza Stark (Australian Genomics)

Green List (high evidence)

PMID: 34626534
Homozygosity for three different variants c.187C>T (p.Arg63∗), c.299T>C (p.Leu100Pro), and c.1142_1143delTT (p.Leu381Hisfs∗95) were identified in four subjects from three families. All variants severely affected protein stability, causing accelerated degradation, and variably perturbed SPRED2 functional behaviour. The clinical phenotype of the four affected individuals included developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, and a typical facial gestalt as major features, without the occurrence of the distinctive skin signs characterizing Legius syndrome.
Sources: Literature
Created: 4 Dec 2021, 7:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • developmental delay
  • intellectual disability
  • cardiac defects
  • short stature
  • skeletal anomalies
  • a typical facial gestalt
OMIM
609292
Clinvar variants
Variants in SPRED2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_22_rating was removed from gene: SPRED2.

30 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to SPRED2. Source NHS GMS was added to SPRED2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

24 Jan 2022, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: SPRED2 was added gene: SPRED2 was added to Cardiomyopathies - including childhood onset. Sources: Literature,Expert Review Amber Q1_22_rating tags were added to gene: SPRED2. Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPRED2 were set to 34626534 Phenotypes for gene: SPRED2 were set to developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt