Congenital Heart Defect
Gene: SPRED2EnsemblGeneIds (GRCh38): ENSG00000198369
EnsemblGeneIds (GRCh37): ENSG00000198369
OMIM: 609292, Gene2Phenotype
SPRED2 is in 7 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Noonan syndrome 14, MIM# 619745
Dean Phelan (Victorian Clinical Genetics Services)
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: LiteratureCreated: 1 Nov 2021, 4:50 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
- PMID: 34626534
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Noonan syndrome 14, MIM# 619745
- OMIM
- 609292
- Clinvar variants
- Variants in SPRED2
- Penetrance
- None
- Publications
-
- PMID: 34626534
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SPRED2 were changed from Rasopathy; developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt to Noonan syndrome 14, MIM# 619745
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: spred2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SPRED2 were changed from developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt to Rasopathy; developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: spred2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Dean Phelan (Victorian Clinical Genetics Services)gene: SPRED2 was added gene: SPRED2 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPRED2 were set to PMID: 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