PIDD1

Chr 11AR

p53-induced death domain protein 1

Also known as: LRDD, MRT75, PIDD, altPIDD1

NCBI Gene: 55367 ENSG00000177595 UniProt: C0HMD6 OMIM: 605247

PIDD1 encodes a protein containing leucine-rich repeats and a death domain that functions as an adaptor protein in cell death signaling pathways and serves as an effector of p53-dependent apoptosis in response to DNA damage. Mutations cause autosomal recessive intellectual developmental disorder with neuropsychiatric features and variant lissencephaly, indicating early neurodevelopmental involvement. This condition follows an autosomal recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, OMIM

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephalyMIM #619827

Clinical highlights

Gene-disease validity (ClinGen)

intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.10

LOEUF

LOF

Mechanism· G2P