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Intellectual disability

Gene: SPRED2

No list

SPRED2 (sprouty related EVH1 domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000198369
EnsemblGeneIds (GRCh37): ENSG00000198369
OMIM: 609292, Gene2Phenotype
SPRED2 is in 1 panel

1 review

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
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

4 Dec 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SPRED2 was added gene: SPRED2 was added to Intellectual disability. Sources: Literature 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 Review for gene: SPRED2 was set to GREEN gene: SPRED2 was marked as current diagnostic