CRADD Chromosome 12
CARD and death domain containing adaptor protein
Upload your DNA to see your personal genotypes for variants in CRADD.
What This Gene Does
This gene encodes a protein containing a death domain (DD) motif. This protein recruits caspase 2/ICH1 to the cell death signal transduction complex, which includes tumor necrosis factor receptor 1 (TNFR1A) and RIPK1/RIP kinase, and acts in promoting apoptosis. A mutation in this gene was associated with cognitive disability. A related pseudogene is found on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Gene Info
Gene Group
"Caspase recruitment domain containing|Caspase-2 PIDDosome complex"
Locus Type
gene with protein product
Location
12q22
Ensembl
ENSG00000169372
Associated Conditions (4)
Intellectual disability
autosomal recessive 34
Moderate intellectual disability
Familial isolated arrhythmogenic right ventricular dysplasia
Key Variants
RS1555213545
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 34, Intellectual disability
Health Risk
RS387906861
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 34, Intellectual disability
Health Risk
RS1207931375
Likely pathogenic
Intellectual disability, autosomal recessive 34, Intellectual disability
Health Risk
RS1956612435
Likely pathogenic
Health Risk
RS141179774
Pathogenic
Intellectual disability, autosomal recessive 34, Intellectual disability
Health Risk
RS749655461
Pathogenic
Intellectual disability, autosomal recessive 34, Intellectual disability
Health Risk
RS764518202
Pathogenic
Health Risk
RS772665884
Pathogenic
Moderate intellectual disability, Intellectual disability, Moderate intellectual disability
Health Risk
RS2540635374
Pathogenic/Likely pathogenic
Familial isolated arrhythmogenic right ventricular dysplasia, Intellectual disability, autosomal recessive 34
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555213545 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 34, Intellectual disability |
| RS387906861 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 34, Intellectual disability |
| RS1207931375 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 34, Intellectual disability |
| RS1956612435 | Health Risk | Likely pathogenic | — |
| RS141179774 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 34, Intellectual disability |
| RS749655461 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 34, Intellectual disability |
| RS764518202 | Health Risk | Pathogenic | — |
| RS772665884 | Health Risk | Pathogenic | Moderate intellectual disability, Intellectual disability, Moderate intellectual disability |
| RS2540635374 | Health Risk | Pathogenic/Likely pathogenic | Familial isolated arrhythmogenic right ventricular dysplasia, Intellectual disability, autosomal recessive 34 |