PIDD1 Chromosome 11
P53-induced death domain protein 1
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What This Gene Does
The protein encoded by this gene contains a leucine-rich repeat and a death domain. This protein has been shown to interact with other death domain proteins, such as Fas (TNFRSF6)-associated via death domain (FADD) and MAP-kinase activating death domain-containing protein (MADD), and thus may function as an adaptor protein in cell death-related signaling processes. The expression of the mouse counterpart of this gene has been found to be positively regulated by the tumor suppressor p53 and to induce cell apoptosis in response to DNA damage, which suggests a role for this gene as an effector of p53-dependent apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
Gene Info
Gene Group
"ZU5 domain containing |Caspase-2 PIDDosome complex"
Locus Type
gene with protein product
Location
11p15.5
Ensembl
ENSG00000177595
Associated Conditions (12)
Intellectual developmental disorder
autosomal recessive 75
with neuropsychiatric features and variant lissencephaly
Inborn genetic diseases
PIDD1-associated neurodevelopmental disorder
Gastric cancer
Familial cancer of breast
Clear cell carcinoma of kidney
Developmental and epileptic encephalopathy
3
Intellectual disability
Cervical cancer
Key Variants
RS1157844813
Conflicting classifications of pathogenicity
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
Health Risk
RS148866521
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual developmental disorder, autosomal recessive 75
Health Risk
RS182019347
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199752248
Conflicting classifications of pathogenicity
PIDD1-associated neurodevelopmental disorder, Intellectual developmental disorder, autosomal recessive 75
Health Risk
RS200290640
Conflicting classifications of pathogenicity
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
Health Risk
RS201920329
Conflicting classifications of pathogenicity
Health Risk
RS1479635413
Likely pathogenic
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
Health Risk
RS1224174574
Pathogenic
Intellectual disability, Intellectual developmental disorder, autosomal recessive 75
Health Risk
RS2133753509
Pathogenic
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
Health Risk
RS2133759109
Pathogenic
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
Health Risk
RS2133768184
Pathogenic
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
Health Risk
RS2495288342
Pathogenic
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1157844813 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly |
| RS148866521 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual developmental disorder, autosomal recessive 75 |
| RS182019347 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199752248 | Health Risk | Conflicting classifications of pathogenicity | PIDD1-associated neurodevelopmental disorder, Intellectual developmental disorder, autosomal recessive 75 |
| RS200290640 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly |
| RS201920329 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1479635413 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly |
| RS1224174574 | Health Risk | Pathogenic | Intellectual disability, Intellectual developmental disorder, autosomal recessive 75 |
| RS2133753509 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly |
| RS2133759109 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly |
| RS2133768184 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly |
| RS2495288342 | Health Risk | Pathogenic | — |
| RS747620551 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly |
| RS758859772 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly |
| RS578222814 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly |