eCRF

Data entered into this eCRF are automatically saved

The contributor will also be able to return at a future date to view and/or edit the eCRF should new information regarding the patient/family become available

Part 2 - Genotyping & Family History

"Minimal" (mandatory) | "Core" (some items can be missing) | "Extended" (ideal/optional)

Warning: The minimal dataset is not complete yet. Please be reminded that to complete the minimal dataset is mandatory in order to have samples processed for genetic analysis. Please continue or come back when you can complete at least the minimal dataset.

2. Genotyping done?

No
Yes and FOUND to have likely pathogenic PD gene mutation(s)
Yes and NOT found to have likely pathogenic PD gene mutation(s)

2.1 If found to have likely pathogenic mutations, please specify which PD gene:

PRKN
PINK1
DJ-1
LRRK2
SNCA
GBA
VPS35
Other (please specify):

3. Genotyping platform used (check all that apply):

Single/Candidate-gene (Sanger) sequencing
Multiplex ligation-dependent probe amplification (MLPA)
NGS-based custom PD-gene panel
NeuroChip
Whole-exome sequencing
Whole-genome sequencing

4. Please give detailed description of positive findings (including details at cDNA and protein level, and zygosity, e.g., "LRRK2, c.6055G>A, p.G2019S, heterozygous, or “PRKN, c.(7+1_8-1)_(171+1_172-1)del, homozygous):

Gene:

Carrying:

5. Family member(s) with PD ("Have any members of your immediate or extended family been diagnosed with Parkinson's by a doctor?"):

Number of relatives diagnosed with PD *

*Data for each additional family member with PD sent to GP2 Monogenic Hub should be uploaded as an individual eCRF

Relationship to index case:

Other, please specify

Year of birth:

Year of symptom onset:

Genetic diagnosis achieved:

not done
negative
yes (Same as index case)

Sample availability:

not available
no, but contactable
yes

Subject ID:

Please list:

Relationship to index case:

Other, please specify

Year of birth:

Year of symptom onset:

Genetic diagnosis achieved:

not done
negative
yes (Same as index case)

Sample availability:

not available
no, but contactable
yes

Subject ID:

Please list:

Relationship to index case:

Other, please specify

Year of birth:

Year of symptom onset:

Genetic diagnosis achieved:

not done
negative
yes (Same as index case)

Sample availability:

not available
no, but contactable
yes

Subject ID:

Please list:

Relationship to index case:

Other, please specify

Year of birth:

Year of symptom onset:

Genetic diagnosis achieved:

not done
negative
yes (Same as index case)

Sample availability:

not available
no, but contactable
yes

Subject ID:

Please list:

Relationship to index case:

Other, please specify

Year of birth:

Year of symptom onset:

Genetic diagnosis achieved:

not done
negative
yes (Same as index case)

Sample availability:

not available
no, but contactable
yes

Subject ID:

Please list:

Relationship to index case:

Other, please specify

Year of birth:

Year of symptom onset:

Genetic diagnosis achieved:

not done
negative
yes (Same as index case)

Sample availability:

not available
no, but contactable
yes

Subject ID:

Please list:

Relationship to index case:

Other, please specify

Year of birth:

Year of symptom onset:

Genetic diagnosis achieved:

not done
negative
yes (Same as index case)

Sample availability:

not available
no, but contactable
yes

Subject ID:

Please list:

Relationship to index case:

Other, please specify

Year of birth:

Year of symptom onset:

Genetic diagnosis achieved:

not done
negative
yes (Same as index case)

Sample availability:

not available
no, but contactable
yes

Subject ID:

Please list:

Relationship to index case:

Other, please specify

Year of birth:

Year of symptom onset:

Genetic diagnosis achieved:

not done
negative
yes (Same as index case)

Sample availability:

not available
no, but contactable
yes

Subject ID:

Please list:

Relationship to index case:

Other, please specify

Year of birth:

Year of symptom onset:

Genetic diagnosis achieved:

not done
negative
yes (Same as index case)

Sample availability:

not available
no, but contactable
yes

Subject ID:

6. Other family member(s) with symptoms suggestive of PD ("Are there any other family members with symptoms or signs suggestive of Parkinson's?"):

no
yes, number of relatives with symptoms but not diagnosed with PD:

Relationship to index case:

Other, please specify

Year of birth:

Year of symptom onset:

Genetic diagnosis achieved:

not done
negative
yes (Same as index case)

Sample availability:

collected
not cоllected but contactable

Subject ID:

Please list:

Relationship to index case:

Other, please specify

Year of birth:

Year of symptom onset:

Genetic diagnosis achieved:

not done
negative
yes (Same as index case)

Sample availability:

collected
not cоllected but contactable

Subject ID:

Please list:

Relationship to index case:

Other, please specify

Year of birth:

Year of symptom onset:

Genetic diagnosis achieved:

not done
negative
yes (Same as index case)

Sample availability:

collected
not cоllected but contactable

Subject ID:

Please list:

Relationship to index case:

Other, please specify

Year of birth:

Year of symptom onset:

Genetic diagnosis achieved:

not done
negative
yes (Same as index case)

Sample availability:

collected
not cоllected but contactable

Subject ID:

Please list:

Relationship to index case:

Other, please specify

Year of birth:

Year of symptom onset:

Genetic diagnosis achieved:

not done
negative
yes (Same as index case)

Sample availability:

collected
not cоllected but contactable

Subject ID:

Please list:

Relationship to index case:

Other, please specify

Year of birth:

Year of symptom onset:

Genetic diagnosis achieved:

not done
negative
yes (Same as index case)

Sample availability:

collected
not cоllected but contactable

Subject ID:

Please list:

Relationship to index case:

Other, please specify

Year of birth:

Year of symptom onset:

Genetic diagnosis achieved:

not done
negative
yes (Same as index case)

Sample availability:

collected
not cоllected but contactable

Subject ID:

Please list:

Relationship to index case:

Other, please specify

Year of birth:

Year of symptom onset:

Genetic diagnosis achieved:

not done
negative
yes (Same as index case)

Sample availability:

collected
not cоllected but contactable

Subject ID:

Please list:

Relationship to index case:

Other, please specify

Year of birth:

Year of symptom onset:

Genetic diagnosis achieved:

not done
negative
yes (Same as index case)

Sample availability:

collected
not cоllected but contactable

Subject ID:

Please list:

Relationship to index case:

Other, please specify

Year of birth:

Year of symptom onset:

Genetic diagnosis achieved:

not done
negative
yes (Same as index case)

Sample availability:

collected
not cоllected but contactable

Subject ID:

7. Family members with other neurological disorders ("Have any members of your immediate or extended family been diagnosed with neurological disorders other than Parkinson's, such as a Parkinson-plus syndrome, dementia, motor neuron disease, cerebellar ataxia, dystonia, spastic paraplegia, epilepsy, or intellectual disability?"):

Number of relatives with neurological disorders other than PD:

Relationship to index case:

Other, please specify

Year of birth:

Neurological disorder:

Year of diagnosis:

Genetic diagnosis achieved:

not done
negative
yes

Please specify the mutated gene:

Relationship to index case:

Other, please specify

Year of birth:

Neurological disorder:

Year of diagnosis:

Genetic diagnosis achieved:

not done
negative
yes

Please specify the mutated gene:

Sample availability:

not available
no, but contactable
yes

Subject ID:

Relationship to index case:

Other, please specify

Year of birth:

Neurological disorder:

Year of diagnosis:

Genetic diagnosis achieved:

not done
negative
yes

Please specify the mutated gene:

Sample availability:

not available
no, but contactable
yes

Subject ID:

Relationship to index case:

Other, please specify

Year of birth:

Neurological disorder:

Year of diagnosis:

Genetic diagnosis achieved:

not done
negative
yes

Please specify the mutated gene:

Sample availability:

not available
no, but contactable
yes

Subject ID:

Relationship to index case:

Other, please specify

Year of birth:

Neurological disorder:

Year of diagnosis:

Genetic diagnosis achieved:

not done
negative
yes

Please specify the mutated gene:

Sample availability:

not available
no, but contactable
yes

Subject ID:

Relationship to index case:

Other, please specify

Year of birth:

Neurological disorder:

Year of diagnosis:

Genetic diagnosis achieved:

not done
negative
yes

Please specify the mutated gene:

Sample availability:

not available
no, but contactable
yes

Subject ID:

Relationship to index case:

Other, please specify

Year of birth:

Neurological disorder:

Year of diagnosis:

Genetic diagnosis achieved:

not done
negative
yes

Please specify the mutated gene:

Sample availability:

not available
no, but contactable
yes

Subject ID:

Relationship to index case:

Other, please specify

Year of birth:

Neurological disorder:

Year of diagnosis:

Genetic diagnosis achieved:

not done
negative
yes

Please specify the mutated gene:

Sample availability:

not available
no, but contactable
yes

Subject ID:

Relationship to index case:

Other, please specify

Year of birth:

Neurological disorder:

Year of diagnosis:

Genetic diagnosis achieved:

not done
negative
yes

Please specify the mutated gene:

Sample availability:

not available
no, but contactable
yes

Subject ID:

Relationship to index case:

Other, please specify

Year of birth:

Neurological disorder:

Year of diagnosis:

Genetic diagnosis achieved:

not done
negative
yes

Please specify the mutated gene:

Sample availability:

not available
no, but contactable
yes

Subject ID:

8. Number of immediate healthy family members (parents or siblings ≥18 years of age, without neurological conditions) with potentially available DNA samples

10. Family history of PD

Positive (additional samples available)
Positive (no additional samples available)
Negative
Unknown

10.1 If positive, please specify for the index case, which family member(s) has/have PD, and their relationships (maternal or paternal side)

11. Family history of other neurodegenerative or movement disorders

Positive (additional samples available)
Positive (no additional samples available)
Negative
Unknown

11.1 If positive, please specify for the index case, which family member(s) has/have another neurodegenerative disorder with the specific diagnosis, and their relationships (maternal or paternal side)