1. Panels
  2. Monogenic short stature
  3. SPRED2
STRs in panel
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Monogenic short stature

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 7 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: Previous phenotypes (overwritten): developmental delay;intellectual disability;cardiac defects;short stature;skeletal anomalies;a typical facial gestalt
Created: 26 Mar 2024, 4:12 p.m. | Last Modified: 26 Mar 2024, 4:12 p.m.
Panel Version: 3.57
Created: 26 Mar 2024, 4:12 p.m.
Last Modified: 26 Mar 2024, 4:12 p.m.
Copied from panel: Growth failure in early childhood v3.78

Catherine Snow (Genomics England)

The rating of this gene has been updated to GREEN following NHS Genomic Medicine Service approval.
Created: 31 Jan 2023, 5:28 p.m. | Last Modified: 31 Jan 2023, 5:28 p.m.
Panel Version: 2.33
Created: 31 Jan 2023, 5:28 p.m.
Last Modified: 31 Jan 2023, 5:28 p.m.
Copied from panel: Growth failure in early childhood v3.78

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
Created: 24 Jan 2022, 9:06 a.m.
Last Modified: 24 Jan 2022, 9:06 a.m.
Copied from panel: Growth failure in early childhood v3.78, Intellectual disability v3.1496

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

Created: 4 Dec 2021, 7:43 a.m.

Copied from panel: Growth failure in early childhood v3.78, Intellectual disability v3.1496

Details

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

History Filter Activity

26 Mar 2024, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: SPRED2 was added gene: SPRED2 was added to Monogenic short stature. Sources: Expert Review Green,Literature,NHS GMS 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 Noonan syndrome 14, OMIM:619745