### Session 1. Initial Assessment of Genomic Content
#### Copy number loss content
1A. Contains ==protein-coding== or other known functionally important elements
1B. Does NOT contain protein-coding or any known functionally important elements


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### Session 2. Overlap with Established Triplosensitive (TS), Haploinsufficient (HI), or Benign Genes or Genomic Regions

What are haploinsufficient(HI) and triplosensitive(TP)?

HI is a genetic phenomenon where an individual has only one functional copy of a particular gene instead of the usual two copies, and this single functional copy is insufficient to produce the normal or required level of gene product for normal cellular function. In other words, the individual is "insufficient" in terms of gene dosage, leading to a partial loss of gene function.

TS is a genetic condition in which an individual has an extra copy (three copies instead of the usual two) of a specific gene or genomic region. This triplication of genetic material can result in a gain of function or an altered dosage of the gene's product, leading to various medical conditions or genetic disorders.
#### HI predictors:

1. DECIPHER HI index (DDD_HI_percent):
percentage < 10% indicate the gene is more likely to exhibit haploinsufficiency.

2. gnomAD pLI score:
value >= 0.9 indicate that the gene appears to be ==intolerant== of loss of function variation.

3. gnomAD LOEUF decile:
similar to pLI score, genes with low LOEUF scores are more intolerant to LoF variants, while genes with high LOEUF scores are more tolerant.

4. ClinGene curated HI/TS score:
similar to the "Review status" of ClinVar, it is used to assess whether there is evidence to support that these genes/regions are dosage sensitive


> * A HI score of 3 suggests the gene/region to be dosage sensitive for a loss, associated with clinical phenotype.
> * A TS score of 3 suggests the gene/region to be dosage sensitive for a gain, associated with clinical phenotype.

The most critical issue in session 2 is how to assess the haploinsufficiency or triplosensitivity of a gene.

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### Section 3: Evaluation of Gene Number
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### Section 4: Detailed Evaluation Using Cases from Published Literature, Databases, and/or Internal Lab Data
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### Section 5: Inheritance Patterns/Family History for Patient Being Studied
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### References:
1. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7313390/
2. https://lbgi.fr/AnnotSV/Documentation/README.AnnotSV_latest.pdf
3. https://search.clinicalgenome.org/kb/gene-dosage