Familial non syndromic congenital heart disease
Gene: SPRED2Comment on list classification: There is enough evidence for this gene to be Green.Created: 24 Jan 2022, 9:59 a.m. | Last Modified: 24 Jan 2022, 9:59 a.m.
Panel Version: 1.73
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
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: 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
Gene: spred2 has been classified as Green List (High Evidence).
Tag Q1_22_rating was removed from gene: SPRED2.
gene: SPRED2 was added gene: SPRED2 was added to Familial non syndromic congenital heart disease. Sources: Expert Review Amber,Literature 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