CDE Detailed Report

Disease: Cerebral Palsy
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: Mutation Analysis

Displaying 1 - 39 of 39
CDE ID CDE Name Variable Name Definition Short Description Question Text Permissible Values Description Data Type Disease Specific Instructions Disease Specific Reference Population Classification (e.g., Core) Version Number Version Date CRF Name (CRF Module / Guidance) Subdomain Name Domain Name Size Input Restrictions Min Value Max Value Measurement Type External Id Loinc External Id Snomed External Id caDSR External Id CDISC
C17895 Genes sequenced with no mutations text GeneSeqNoMutationsTxt The free-text field about additional genes sequenced with no mutations detected The free-text field about additional genes sequenced with no mutations detected If yes, indicate: Alphanumeric No references available Adult;Pediatric Supplemental 3.10 2024-02-29 15:54:42.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C12783 Variant mutational analysis results available indicator VarMutAnlysisResltsAvailInd Indicator of whether the variant or mutational analysis results are available on this participant Indicator of whether the variant or mutational analysis results are available on this participant Mutational analysis results available on this participant/subject: Yes;No Yes;No Alphanumeric

If no answered, stop completing form.
Supplemental - Highly Recommended

No references available Adult;Pediatric Supplemental-Highly Recommended 3.20 2024-02-29 15:54:36.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12794 Gene promoter deletion indicator GenePromoterDeletionInd Whether known gene promoters were deleted Whether known gene promoters were deleted Are known gene promoters deleted: Yes;No;Unknown Yes;No;Unknown Alphanumeric

Answer for Allele #1/Allele #2 if a subexonic insertion/deletion was detected. Choose one.

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12806 Gene protein variant mutation name GeneProteinVarMutName Name using the Human Genome Organisation (HUGO) variant or mutation nomenclature of the protein variant or mutation Name using the Human Genome Organisation (HUGO) variant or mutation nomenclature of the protein variant or mutation Protein: Alphanumeric

Only answered if Yes was answered for "mRNA analysis performed?" for the allele.

No references available Adult;Pediatric Supplemental 3.20 2024-02-29 15:55:04.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C17896 Variant mutational analysis not performed reason VarMutAnlysisNotPerfRsn Reason for why the mutational analysis was not performed Reason for why the mutational analysis was not performed If no, provide explanation Alphanumeric No references available Adult;Pediatric Supplemental 3.20 2024-02-29 15:54:38.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C12784 Variant mutational analysis performed family member indicator VarMutAnlysisPerfFamMembrInd Indicator of whether the mutational analysis was performed on a family member Indicator of whether the mutational analysis was performed on a family member If no, was mutational analysis performed on a family member? Yes;No Yes;No Alphanumeric

Answer if mutation analysis was not performed on participant/subject. Choose one. If No, provide explanation.
Supplemental - Highly Recommended

No references available Adult;Pediatric Supplemental-Highly Recommended 3.20 2024-02-29 15:54:37.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12795 Gene coding region sequenced indicator GeneCodingRegionSeqInd Indicator of whether the entire coding region was sequenced for the allele of the gene for missense/nonsense variant or point mutations or pseudoexons Indicator of whether the entire coding region was sequenced for the allele of the gene for missense/nonsense variant or point mutations or pseudoexons Was the entire coding region sequenced: Yes;No Yes;No Alphanumeric

Answer for Allele #1/Allele #2 if a point mutation or pseudoexon was detected. Choose one.

No references available Adult;Pediatric Supplemental 3.20 2024-02-29 15:54:55.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12807 Gene second disease allele indicator GeneSecondDiseaseAlleleInd Indicator of whether a second disease allele was identified Indicator of whether a second disease allele was identified Was a second disease allele identified? Yes;No Yes;No Alphanumeric

If no answered, stop completing form.

No references available Adult;Pediatric Supplemental 3.10 2024-02-29 15:55:04.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C18873 Gene mutation detected digenic result specify GeneMutDetectedResltST The free-text field related to 'Gene mutation detected result type'. Type of gene mutation detected The free-text field related to 'Gene mutation detected result type'. Type of gene mutation detected Digenic, specify Alphanumeric

If Digenic is answered, record the second mutation. Supplemental - Highly Recommended

No references available Adult;Pediatric Supplemental-Highly Recommended 3.00 2013-07-25 08:54:08.2 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

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C12785 Gene variant mutation detected result type GeneVarMutDetectedResltTyp Type of gene variant or mutation detected Type of gene variant or mutation detected Mutation(s) detected: Homozygous;Hemizygous;Heterozygous – two alleles identified;Heterozygous – only one allele identified;Digenic (mutations in more than one gene);No mutation detected Homozygous;Hemizygous;Heterozygous – two alleles identified;Heterozygous – only one allele identified;Digenic (mutations in more than one gene);No mutation detected Alphanumeric

If Digenic is answered, record the second mutation.
Supplemental - Highly Recommended

No references available Adult;Pediatric Supplemental-Highly Recommended 3.10 2024-02-29 15:54:39.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected

C12796 Gene targeted variant mutational analysis indicator GeneTargetedVarMutAnlysisInd Indicator of whether variant or mutational analysis was targeted at a particular variant or mutation Indicator of whether variant or mutational analysis was targeted at a particular variant or mutation Targeted mutational analysis only: Yes;No Yes;No Alphanumeric

Answer for Allele #1/Allele #2 if a point mutation or pseudoexon was detected. Choose one.

No references available Adult;Pediatric Supplemental 3.20 2024-02-29 15:54:55.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12808 Gene sequenced with no variant mutation indicator GeneSeqNoVarMutationsInd Indicator of whether there are additional genes sequenced with no variants or mutations detected Indicator of whether there are additional genes sequenced with no variants or mutations detected Are there additional genes sequenced with no mutations detected? Yes;No Yes;No Alphanumeric

Choose one

No references available Adult;Pediatric Supplemental-Highly Recommended 3.10 2024-02-29 15:54:41.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C18874 Gene variant mutation category other text GeneVarMutationCatOTH The free-text field related to 'Gene variant or mutation category', specifying other text. Category of the variant or mutation detected on the gene The free-text field related to 'Gene variant or mutation category', specifying other text. Category of the variant or mutation detected on the gene Other, specify Alphanumeric

Answered for Allele #1 and Allele #2. Choose all that apply.

No references available Adult;Pediatric Supplemental 3.20 2024-02-29 15:54:49.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

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C12786 Allele identifier name AlleleID Name that identifies which allele the associated data describe Name that identifies which allele the associated data describe Allele specific information Allele #1;Allele #2 Allele #1;Allele #2 Alphanumeric

Choose one

No references available Adult;Pediatric Supplemental 4.00 2024-02-29 15:54:47.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12797 Gene targeted variant mutational analysis type GeneTarVarMutAnlysisTyp Type of targeted variant or mutational analysis performed for the gene Type of targeted variant or mutational analysis performed for the gene If Yes, type of analysis: Hot-spot;Known familial mutation;Other, specify Hot-spot;Known familial mutation;Other, specify Alphanumeric

Answer for Allele #1/Allele #2 if a point mutation or pseudoexon was detected and if Yes is answered for "Targeted mutational analysis only?"

No references available Adult;Pediatric Supplemental 3.20 2024-02-29 15:54:56.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12818 Gene second allele identical indicator GeneSecondAlleleIdenticalInd Indicator of whether allele #2 is identical to allele #1 Indicator of whether allele #2 is identical to allele #1 Is allele # 2 identical to allele # 1 (Homozygous only): Yes;No Yes;No Alphanumeric

Answer if homozygous only; if yes answered, stop completing form

No references available Adult;Pediatric Supplemental 3.10 2024-02-29 15:55:05.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C18875 Gene targeted variant mutational analysis other text GeneTarVarMutAnlysisOTH The free-text field related to 'Gene targeted variant or mutational analysis type', specifying other text. Type of targeted variant or mutational analysis performed for the gene The free-text field related to 'Gene targeted variant or mutational analysis type', specifying other text. Type of targeted variant or mutational analysis performed for the gene Other, specify Alphanumeric

Answer for Allele #1/Allele #2 if a point mutation or pseudoexon was detected and if Yes is answered for "Targeted mutational analysis only?"

No references available Adult;Pediatric Supplemental 3.20 2024-02-29 15:54:57.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

Free-Form Entry

C12787 Gene variant mutation category GeneVarMutationCat Category of the variant or mutation detected on the gene Category of the variant or mutation detected on the gene Mutation Class: Deletion;Duplication;Missense;Nonsense;Potential;Pseudoexon;Splice;Subexonic Insertion/Deletion;Other, specify Deletion;Duplication;Missense;Nonsense;Potential;Pseudoexon;Splice;Subexonic Insertion/Deletion;Other, specify Alphanumeric

Answered for Allele #1 and Allele #2. Choose all that apply.

No references available Adult;Pediatric Supplemental 3.20 2024-02-29 15:54:48.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected

C12798 Gene missense nonsense variant point mutation location type GeneMsNsVrPointMutLocTyp Type of location of the missense/nonsense variant or point mutation Type of location of the missense/nonsense variant or point mutation Point mutation location: Exon (point mutation);Intron;Other Exon (point mutation);Intron;Other Alphanumeric

Choose one

No references available Adult;Pediatric Supplemental 4.00 2024-02-29 15:54:57.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12944 Variant mutational analysis performed indicator VarMutAnlysisPerfInd Indicator of whether the variant or mutational analysis was performed on the participant Indicator of whether the variant or mutational analysis was performed on the participant Mutational analysis performed on the participant/subject Yes;No Yes;No Alphanumeric

Choose one. Supplemental - Highly Recommended

No references available Adult;Pediatric Supplemental-Highly Recommended 3.20 2024-02-29 15:54:37.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12788 Gene exon copy number tested indicator GeneExonCopyNumTestInd Indicator of whether the copy number was directly tested for all exons Indicator of whether the copy number was directly tested for all exons Was the copy number directly tested for all exons? Yes;No;Unknown Yes;No;Unknown Alphanumeric

Answer for Allele #1/Allele #2 if a subexonic insertion/deletion was detected. Choose one.

No references available Adult;Pediatric Supplemental 3.10 2024-02-29 15:54:49.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12800 Gene missense nonsense variant point mutation insertion deletion type GeneMsNsVrPntMutInsertDelTyp Type of the insertion deletion of the missense/nonsense variant or point mutation Type of the insertion deletion of the missense/nonsense variant or point mutation Insertion Deletion: Deletion;Insertion;Insertion/Deletion Deletion;Insertion;Insertion/Deletion Alphanumeric

Answer for Allele #1/Allele #2 if a point mutation or pseudoexon was detected. Choose one.

No references available Adult;Pediatric Supplemental 3.20 2024-02-29 15:55:00.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C17889 Gene missense nonsense variant point mutation location exon text GeneMsNsVrPointMutLocExonTxt The free-text field about missense/nonsense variant or point mutation at the exon The free-text field about missense/nonsense variant or point mutation at the exon Exon (Point Mutation): Alphanumeric No references available Adult;Pediatric Supplemental 3.20 2024-02-29 15:54:58.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C12789 Gene deletions duplications limits clearly defined indicator GeneDelDupLimClearlyDefInd Indicator of whether the limits of deletions and duplications are defined Indicator of whether the limits of deletions and duplications are defined Are the limits of deletions and duplications completely defined? Yes;No;Unknown Yes;No;Unknown Alphanumeric

Answer for Allele #1/Allele #2 if a subexonic insertion/deletion was detected. Choose one.

No references available Adult;Pediatric Supplemental 3.10 2024-02-29 15:54:50.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12801 Gene point mutation nonsense variant codon type GenePointMutNonsenseVrCodonTyp Type of nonsense variant or point mutation Type of nonsense variant or point mutation Nonsense Type: UAA;UAG;UGA;Not applicable UAA;UAG;UGA;Not applicable Alphanumeric

Answer for Allele #1/Allele #2 if a point mutation or pseudoexon was detected. Choose one.

No references available Adult;Pediatric Supplemental 3.10 2024-02-29 15:55:00.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C17890 Allele number one missense nonsense variant or point mutation subclass information type AlleleNm1MNsVrOrPoMtLcSbIfTyp Type of missense/nonsense variant or point mutation subclass information, first allele number one Type of missense/nonsense variant or point mutation subclass information, first allele number one Point mutation subclass information: Insertion Deletion;Nonsense Type Insertion Deletion;Nonsense Type Alphanumeric No references available Adult;Pediatric Supplemental 3.10 2022-07-27 11:11:15.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12790 Gene exon first deleted duplicated name GeneExonFirstDelDupName Name of the first exon deleted or duplicated Name of the first exon deleted or duplicated First Deleted/Duplicated Exon: Alphanumeric

Answer for Allele #1/Allele #2 if a subexonic insertion/deletion was detected and the limits of deletions and duplications are completely defined.

No references available Adult;Pediatric Supplemental 3.10 2024-02-29 15:54:51.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry

C12802 Gene variant mutation mRNA analysis performed indicator GeneVarMutMRNAAnlysisPerfInd Indicator of whether messenger ribonucleic acid (mRNA) analysis was performed Indicator of whether messenger ribonucleic acid (mRNA) analysis was performed mRNA analysis performed: Yes;No;Unknown Yes;No;Unknown Alphanumeric

Answered for Allele #1 and Allele #2 (if applicable). Choose one.

No references available Adult;Pediatric Supplemental 3.20 2024-02-29 15:55:01.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C17891 Gene additional variants unknown significance text GeneAddVarUnkSignfcnceTxt The free-text field about additional variants in other genes of unknown significance The free-text field about additional variants in other genes of unknown significance If yes, indicate: Alphanumeric No references available Adult;Pediatric Supplemental 3.10 2024-02-29 15:54:40.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry

C12791 Gene exon last deleted duplicated name GeneExonLstDelDupName Name of the exon last deleted or duplicated Name of the exon last deleted or duplicated Last Deleted/Duplicated Exon: Alphanumeric

Answer for Allele #1/Allele #2 if a subexonic insertion/deletion was detected and the limits of deletions and duplications are completely defined.

No references available Adult;Pediatric Supplemental 3.10 2024-02-29 15:54:52.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry

C12803 Gene variant mutation implications confirmed mRNA analysis indicator GeneVrrMutImpConMRNAAnlyssInd Indicator of whether the messenger ribonucleic acid (mRNA) analysis confirmed implications of genetic analysis Indicator of whether the messenger ribonucleic acid (mRNA) analysis confirmed implications of genetic analysis If yes, were implications confirmed: Yes;No Yes;No Alphanumeric

Only answered if Yes was answered for "mRNA analysis performed?" for the allele. Choose one.

No references available Adult;Pediatric Supplemental 3.20 2024-02-29 15:55:02.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C17893 Gene missense nonsense variant point mutation location other text GeneMsNsVrPntMutLocOtherTxt The free-text field about missense/nonsense variant or point mutation at locations other than the exon and intron The free-text field about missense/nonsense variant or point mutation at locations other than the exon and intron Other: Alphanumeric No references available Adult;Pediatric Supplemental 3.20 2024-02-29 15:54:59.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry

C12690 Gene name GeneName Name of the gene analyzed Name of the gene analyzed Gene name Alphanumeric

Answer for Allele #1 and Allele #2 (if applicable)

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry

C12792 Gene whole deletion indicator GeneWholeDelInd Whether the entire gene was deleted Whether the entire gene was deleted Whole gene deletion? Yes;No;Unknown Yes;No;Unknown Alphanumeric

Answer for Allele #1/Allele #2 if a subexonic insertion/deletion was detected. Choose one.

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12804 Gene cDNA variant mutation name GeneCDNAVarMutName Name using the Human Genome Organisation (HUGO) variant or mutation nomenclature of the complementary deoxyribonucleic acid (cDNA) variant or mutation Name using the Human Genome Organisation (HUGO) variant or mutation nomenclature of the complementary deoxyribonucleic acid (cDNA) variant or mutation cDNA: Alphanumeric

Only answered if Yes was answered for "mRNA analysis performed?" for the allele.

No references available Adult;Pediatric Supplemental 3.20 2024-02-29 15:55:02.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry

C17894 Gene missense nonsense variant point mutation location intron text GeneMsNsVrPntMutLocIntronTxt The free-text field about missense/nonsense variant or point mutation at the intron The free-text field about missense/nonsense variant or point mutation at the intron Intron: Alphanumeric No references available Adult;Pediatric Supplemental 3.20 2024-02-29 15:54:59.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry

C12782 Gene additional variants unknown significance indicator GeneAddVarUnknownSignfcnceInd Indicator of whether there are additional variants in other genes of unknown significance Indicator of whether there are additional variants in other genes of unknown significance Are there additional variants in other genes of unknown significance? Yes;No Yes;No Alphanumeric

Choose one

No references available Adult;Pediatric Supplemental-Highly Recommended 3.10 2024-02-29 15:54:39.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12793 Gene exon predicted reading frame type GeneExonPredReadFrameTyp Type of predicted reading frame Type of predicted reading frame Predicted reading frame: IN;Out;Unknown IN;Out;Unknown Alphanumeric

Answer for Allele #1/Allele #2 if a subexonic insertion/deletion was detected. Choose one.

No references available Adult;Pediatric Supplemental 4.00 2024-03-18 15:21:17.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12805 Gene mRNA variant mutation name GeneMRNAVarMutName Name using the Human Genome Organisation (HUGO) variant or mutation nomenclature of the messenger ribonucleic acid (mRNA) variant or mutation Name using the Human Genome Organisation (HUGO) variant or mutation nomenclature of the messenger ribonucleic acid (mRNA) variant or mutation mRNA: Alphanumeric

Only answered if Yes was answered for "mRNA analysis performed?" for the allele.

No references available Adult;Pediatric Supplemental 3.20 2024-02-29 15:55:03.0 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry

CSV