CRADD
Basic information
Region (hg38): 12:93677375-93894840
Links
Phenotypes
GenCC
Source:
- intellectual disability, autosomal recessive 34 (Limited), mode of inheritance: AR
- intellectual disability, autosomal recessive 34 (Strong), mode of inheritance: AR
- intellectual disability, autosomal recessive 34 (Strong), mode of inheritance: AR
- autosomal recessive non-syndromic intellectual disability (Supportive), mode of inheritance: AR
- syndromic intellectual disability (Definitive), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly | AR | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Neurologic | 22279524; 27773430 |
ClinVar
This is a list of variants' phenotypes submitted to
- not_provided (42 variants)
- Inborn_genetic_diseases (21 variants)
- Intellectual_disability,_autosomal_recessive_34 (12 variants)
- CRADD-related_disorder (6 variants)
- not_specified (4 variants)
- Intellectual_disability (3 variants)
- Intellectual_disability,_moderate (1 variants)
- Familial_isolated_arrhythmogenic_right_ventricular_dysplasia (1 variants)
- Global_developmental_delay (1 variants)
- Seizure (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CRADD gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003805.5. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 17 | 19 | ||||
missense | 28 | 37 | ||||
nonsense | 1 | |||||
start loss | 2 | 2 | ||||
frameshift | 3 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 5 | 4 | 29 | 22 | 2 |
Highest pathogenic variant AF is 0.000273903
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
CRADD | protein_coding | protein_coding | ENST00000542893 | 2 | 217466 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.879 | 0.120 | 125737 | 0 | 10 | 125747 | 0.0000398 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.0968 | 118 | 121 | 0.975 | 0.00000736 | 1280 |
Missense in Polyphen | 44 | 49.448 | 0.88983 | 549 | ||
Synonymous | -1.55 | 67 | 52.7 | 1.27 | 0.00000306 | 422 |
Loss of Function | 2.43 | 0 | 6.87 | 0.00 | 2.94e-7 | 75 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000579 | 0.0000579 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000177 | 0.0000176 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.000163 | 0.000163 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Apoptotic adaptor molecule specific for caspase-2 and FASL/TNF receptor-interacting protein RIP. In the presence of RIP and TRADD, CRADD recruits caspase-2 to the TNFR-1 signalling complex.;
- Disease
- DISEASE: Mental retardation, autosomal recessive 34, with variant lissencephaly (MRT34) [MIM:614499]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT34 is a non-syndromic form. Affected individuals have mildly delayed development and significantly impaired cognitive function, precluding independent living and self-care. Speech is rudimentary, but articulate; autism is not present. {ECO:0000269|PubMed:22279524}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- Pathway
- Apoptosis Modulation and Signaling;Apoptosis;Apoptotic Signaling Pathway;Gene expression (Transcription);tnfr1 signaling pathway;hiv-1 nef: negative effector of fas and tnf;tnf/stress related signaling;Generic Transcription Pathway;TP53 Regulates Transcription of Cell Death Genes;RNA Polymerase II Transcription;ceramide signaling pathway;TP53 Regulates Transcription of Caspase Activators and Caspases;sodd/tnfr1 signaling pathway;Transcriptional Regulation by TP53;TNFalpha;Caspase Cascade in Apoptosis;HIV-1 Nef: Negative effector of Fas and TNF-alpha;Ceramide signaling pathway
(Consensus)
Recessive Scores
- pRec
- 0.146
Intolerance Scores
- loftool
- 0.215
- rvis_EVS
- -0.01
- rvis_percentile_EVS
- 53.51
Haploinsufficiency Scores
- pHI
- 0.180
- hipred
- Y
- hipred_score
- 0.610
- ghis
- 0.477
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.326
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Cradd
- Phenotype
- mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cellular phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- activation of cysteine-type endopeptidase activity involved in apoptotic process;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;extrinsic apoptotic signaling pathway via death domain receptors;regulation of apoptotic process;positive regulation of apoptotic process;cellular response to mechanical stimulus;apoptotic signaling pathway;positive regulation of apoptotic signaling pathway
- Cellular component
- nucleus;cytoplasm;cytosol
- Molecular function
- protease binding;protein binding;protein binding, bridging;death domain binding