ACMG Secondary Findings Panel Nomination Form

ACMG Secondary Finding Panel Nomination Form
Date

MonthDayYear
Date
Name

First NameLast Name
Email
example@example.com
Address

Street Address

Street Address Line 2

CityState / Province

Postal / Zip Code
Title
Phone Number
Please enter a valid phone number.
Co-sponsoring organization (if applicable)
Background
As you submit a nomination, please keep in mind the goals of the Secondary Findings Gene Panel:
- Genes should be medically actionable. "Actionability" means that a medical or surgical intervention is available that has demonstrated effectiveness to alter the course of the disease process itself.
- Genes should have a clear phenotype associated with deleterious mutations. The phenotype(s) and penetrance will need to be described and at least one of the phenotypes should have serious medical implications.
- A gene may be associated with more than one phenotype. The actionability of a gene is in relation to a particular phenotype.
Gene, Condition(s) and Intervention(s)
Please complete the following section about the gene you are nominating for adding/removing and include references to support the information you provide. If the gene is associated with more than one phenotype, please consider the most severe phenotype for answering questions related to actionability.
Add or remove?
Gene symbol
Gene name
OMIM #
Phenotype(s)/Condition(s) caused by pathogenic variants in this gene that are associated with an alternative clinical manifestation that has low morbidity (e.g., is not life threatening) and therefore would not be reported in a secondary finding list. Only the phenotype with the most significant morbidity will be reported on subsequent pages.
OMIM Phenotype #
OMIM Phenotype #
OMIM Phenotype #
Phenotype

(Consider the phenotype with the most significant morbidity)
OMIM Phenotype #
Clinical Features
How is the diagnosis routinely made clinically?
How frequently would diagnosis be missed in the context of routine clinical care by a general pediatrician/internist?
Is the condition included in the consensus panel for newborn screening?
Fraction of patients with this phenotype attributable to this gene
Range in age of onset
Average age of onset
Prevalence (Across all ethnic groups in the US)
Is it more common in any specific ethnic groups? If so, which one and how frequent?
Penetrance (provide age specific penetrance, if available)
Please indicate any references to support the information about clinical features
Molecular Genetic Features
Inheritance Mode (e.g., AD, AR, X-linked, mitochondrial)
Frequency of spontaneous mutations (common/rare)
Types of mutations (e.g., frameshift, nonsense) known to have deleterious impact
Are there well characterized founder mutations? (if so, please list)
List curated databases to classify variants
Please indicate any references to support the information about molecular genetics
Clinical Genetic Testing
What fraction of mutations are identifiable on routine exome sequencing?
Is there an available confirmatory, orthogonal diagnostic test?
If so, what is the test?
How readily available is the confirmatory diagnostic test at most medical centers?
What does the test entail (blood, imaging, biopsy)?
How sensitive is the confirmatory diagnostic test?
How specific is the confirmatory diagnostic test?
Please indicate any references to support the information about clinical testing
Actionability
1. Severity (What is the nature of the morbidity for an individual carrying a clearly deleterious allele in this gene? Consider the most severe outcome for those gene-disorder pairs with multiple outcomes.)
Risk of sudden death? (Y/N)
Reasonable possibility of death or major morbidity? (Y/N)
Modest morbidity? (Y/N)
Please describe the morbidity or threat to health related to this phenotype (if any)
2. Likelihood of disease: What is the lifetime percent chance that if a deleterious mutation is present the morbidity noted above will materialize?
3. Intervention (Prevention or Treatment): Only specific medical or surgical interventions known to ameliorate risk will be considered (e.g., we do not consider general "lifestyle" and behavioral changes that are generally recommended to individuals in many contexts.
Are there effective and available interventions that will mitigate or ameliorate the threat of the outcome above (Y/N)?
Please describe the intervention(s) to ameliorate this phenotype and their effectiveness
Please indicate any references to support improved outcomes for patients treated with the indicated intervention
Should be Empty:

ACMG Secondary Finding Panel Nomination Form

Background

Gene, Condition(s) and Intervention(s)

Phenotype

Clinical Features

Molecular Genetic Features

Clinical Genetic Testing

Actionability