id string | patient dict | question dict | answer_expected string | answer_explanation string | difficulty_rationale string | sources list | citations list | otherSource null |
|---|---|---|---|---|---|---|---|---|
AITX-00001 | {
"clinical_context": "Progressive muscle weakness",
"genotype": [
{
"gene": "DMD",
"transcript": "NM_004006.2",
"variant_cdna": "c.7544_9286del",
"variant_protein": "p.(Thr2516_Ala3096del)",
"zygosity": "hemizygous"
}
]
} | {
"answer_format": "multiple_choice",
"category": "Established_Targeted",
"date_submitted": "2025-08-01",
"prompt": "To which of the following targeted therapies would this variant be most likely amenable: Golodirsen, Viltolarsen, Eteplirsen, Casimersen, Ataluren, or None?"
} | Eteplirsen | Variant results in deletion of exons 52-63, which is listed as amenable to exon 51 skipping | [
"GeneReviews",
"PubMed/Literature"
] | [] | null | |
AITX-00002 | {
"clinical_context": "Progressive muscle weakness",
"genotype": [
{
"gene": "DMD",
"transcript": "NM_004006.2",
"variant_cdna": "c.10453_10454delinsTA",
"variant_protein": "p.(Leu3485Ter)",
"zygosity": "hemizygous"
}
]
} | {
"answer_format": "multiple_choice",
"category": "Established_Targeted",
"date_submitted": "2025-08-01",
"prompt": "To which of the following targeted therapies would this variant be most likely amenable: Golodirsen, Viltolarsen, Eteplirsen, Casimersen, Ataluren, or None?"
} | Ataluren | Variant results in a nonsense in exon 74, which is amenable to nonsense readthrough | [] | [] | null | |
AITX-00003 | {
"clinical_context": "Progressive muscle weakness",
"genotype": [
{
"gene": "DMD",
"transcript": "NM_004006.2",
"variant_cdna": "c.70T>C",
"variant_protein": "p.(Trp24Arg)",
"zygosity": "hemizygous"
}
]
} | {
"answer_format": "multiple_choice",
"category": "Established_Targeted",
"date_submitted": "2025-08-01",
"prompt": "To which of the following targeted therapies would this variant be most likely amenable: Eteplirsen, Golodirsen, Viltolarsen, Casimersen, Ataluren, or None?"
} | None | Results in a missense in exon 2, which is not amenable to nonsense readthrough and is upstream from skippable exons | [] | [] | null | |
AITX-00004 | {
"clinical_context": "Recurrent nephrocalcinosis and chronic kidney disease",
"genotype": [
{
"gene": "AGXT",
"transcript": "NM_000030.3",
"variant_cdna": "c.508G>A",
"variant_protein": "p.(Gly170Arg)",
"zygosity": "homozygous"
}
]
} | {
"answer_format": "string_match",
"category": "Established_Targeted",
"date_submitted": "2025-08-01",
"prompt": "What targeted, small molecule therapy is available for this patient? Provide the generic name or None."
} | Pyridoxine | Missense variants are amenable to pyridoxine treatment | [
"GeneReviews"
] | [
"https://www.ncbi.nlm.nih.gov/books/NBK1283/"
] | null | |
AITX-00005 | {
"clinical_context": "Recurrent nephrocalcinosis and chronic kidney disease",
"genotype": [
{
"gene": "AGXT",
"transcript": "NM_000030.3",
"variant_cdna": "c.33dup",
"variant_protein": "p.(Lys12GlnfsTer156)",
"zygosity": "homozygous"
}
]
} | {
"answer_format": "binary",
"category": "Established_Targeted",
"date_submitted": "2025-08-01",
"prompt": "Is this patient predicted to be responsive to pyridoxine? Answer yes or no."
} | No | Pyridoxine is not effective for patients with null variants | [
"GeneReviews"
] | [
"https://www.ncbi.nlm.nih.gov/books/NBK1283/"
] | null | |
AITX-00006 | {
"clinical_context": "7 year old with recurrent nephrocalcinosis and chronic kidney disease",
"genotype": [
{
"gene": "AGXT",
"transcript": "NM_000030.3",
"variant_cdna": "c.33dup",
"variant_protein": "p.(Lys12GlnfsTer156)",
"zygosity": "homozygous"
}
]
} | {
"answer_format": "string_match",
"category": "Established_Targeted",
"date_submitted": "2025-08-01",
"prompt": "What targeted, genetic therapies are approved for this patient in the US? Provide the generic name."
} | Lumasiran | Lumasiran is approved for patients of all ages whereas Nedosiran is only approved for patients age >9. | slight change in patient age changes the answer | [
"GeneReviews"
] | [
"https://www.ncbi.nlm.nih.gov/books/NBK1283/"
] | null |
AITX-00007 | {
"clinical_context": "Global developmental delay",
"genotype": [
{
"gene": "DDC",
"transcript": "NM_001082971.2",
"variant_cdna": "c.286G>A",
"variant_protein": "p.(Gly96Arg)",
"zygosity": "homozygous"
}
]
} | {
"answer_format": "string_match",
"category": "Established_Targeted",
"date_submitted": "2025-08-01",
"prompt": "What is the youngest age for which a gene therapy is approved for this patient's genetic condition in the united kingdom? Answer with the format \"X months\"."
} | 18 months | specified on GeneReviews | [
"GeneReviews"
] | [
"https://www.ncbi.nlm.nih.gov/books/NBK595821/"
] | null | |
AITX-00008 | {
"clinical_context": "joint hypermobility, skin hyperextensibility, and easy bruising",
"genotype": [
{
"gene": "COL1A1",
"transcript": "NM_000088.4",
"variant_cdna": "c.1678G>A",
"variant_protein": "p.(Gly560Ser)",
"zygosity": "heterozygous"
}
]
} | {
"answer_format": "string_match",
"category": "Established_Supportive",
"date_submitted": "2025-08-01",
"prompt": "What two medications are most established for decreasing bruising? List generic names in alphabetical order"
} | ascorbic acid, desmopressin | specified in management on GeneReviews | [
"GeneReviews"
] | [
"https://www.ncbi.nlm.nih.gov/books/NBK1244/#eds.Management"
] | null | |
AITX-00009 | {
"clinical_context": "Patient with SLC35A2-CDG who is experiencing seizures and global developmental delay",
"genotype": [
{
"gene": "SLC35A2",
"transcript": "NM_005660.3",
"variant_cdna": "c.3G>A",
"variant_protein": "p.Met1Ile",
"zygosity": "heterozygous"
}
]
} | {
"answer_format": "string_match",
"category": "Clinical_Trials",
"date_submitted": "2025-08-01",
"prompt": "What clinical trial developing a new therapeutic for this condition is recruiting or listed as upcoming/not yet recruiting? Return a clinical trials ID"
} | NCT05402384 | search for SLC35A2 on ClinicalTrials.gov returns only 2 trials, 1 of which is upcoming | [
"ClinicalTrials.gov"
] | [
"https://clinicaltrials.gov/study/NCT05402384"
] | null | |
AITX-00010 | {
"clinical_context": "seizures and global developmental delay. Age 2 months, Hemoglobin 5, Normal liver labs, Not enrolled in other trials",
"genotype": [
{
"gene": "SLC35A2",
"transcript": "NM_005660.3",
"variant_cdna": "c.3G>A",
"variant_protein": "p.Met1Ile",
"zygosity": "heterozygous"
}
]
} | {
"answer_format": "binary",
"category": "Clinical_Trials",
"date_submitted": "2025-08-01",
"prompt": "Is this patient eligible for clinical trial NCT05402384? Answer yes or no."
} | No | Exclusion criteria lists hemoglobin <7 | [
"ClinicalTrials.gov"
] | [
"https://clinicaltrials.gov/study/NCT05402384"
] | null | |
AITX-00011 | {
"clinical_context": "early-onset seizures and developmental delays",
"genotype": [
{
"gene": "KCNT1",
"transcript": "NM_020822.3",
"variant_cdna": "c.2849G>A",
"variant_protein": "p.Arg950Gln",
"zygosity": "heterozygous"
}
]
} | {
"answer_format": "string_match",
"category": "Clinical_Trials",
"date_submitted": "2025-08-01",
"prompt": "For which clinical trials evaluating new therapeutics is this patient eligible? Provide a clinical trial ID or answer None."
} | None | Only a natural history study is listed. | [
"ClinicalTrials.gov"
] | [
"https://clinicaltrials.gov/search?cond=KCNT1"
] | null | |
AITX-00012 | {
"clinical_context": "intellectual disability, seizures, and developmental delays",
"genotype": [
{
"gene": "GRIN2B",
"transcript": "NM_000834.5",
"variant_cdna": "c.2755C>T",
"variant_protein": "p.Gln919Ter",
"zygosity": "heterozygous"
}
]
} | {
"answer_format": "multiple_choice",
"category": "Drug_Development_and_Repurposing",
"date_submitted": "2025-08-01",
"prompt": "Is it more likely amenable to treatment with Memantine, L-serine, or Radiprodil"
} | L-Serine | Variant is a LOF variant. L-serine is being used for LOF variants whereas the others are being used for GOF variants | [
"PubMed/Literature"
] | [
"https://academic.oup.com/brain/article/147/5/1653/7611854?login=false"
] | null | |
AITX-00013 | {
"clinical_context": "progressive cerebellar ataxia and peripheral neuropathy",
"genotype": [
{
"gene": "ANO10",
"transcript": "NM_018075.5",
"variant_cdna": "c.289del",
"variant_protein": "p.(Met97Ter)",
"zygosity": "homozygous"
}
]
} | {
"answer_format": "numeric_match",
"category": "Variant_Assessment",
"date_submitted": "2025-08-01",
"prompt": "How many amino acids are coded for by the exon in which this variant occurs? Answer with a number"
} | 66 | visual inspection on Ensembl | [
"Other"
] | [] | null | |
AITX-00014 | {
"clinical_context": "progressive cerebellar ataxia and peripheral neuropathy",
"genotype": [
{
"gene": "ANO10",
"transcript": "NM_018075.5",
"variant_cdna": "c.289del",
"variant_protein": "p.(Met97Ter)",
"zygosity": "homozygous"
}
]
} | {
"answer_format": "numeric_match",
"category": "Variant_Assessment",
"date_submitted": "2025-08-01",
"prompt": "What percentage of the total coding transcript for this gene are encoded by the exon in which this variant occurs? Answer with a decimal to nearest tenth."
} | 0.1 | 66/660 = 0.1 | [
"Other"
] | [] | null | |
AITX-00015 | {
"clinical_context": "childhood-onset generalized dystonia",
"genotype": [
{
"gene": "KMT2B",
"transcript": "NM_014727.3",
"variant_cdna": "c.8079delC",
"variant_protein": "p.(Ile2694SerfsTer44)",
"zygosity": "heterozygous"
}
]
} | {
"answer_format": "binary",
"category": "Variant_Assessment",
"date_submitted": "2025-08-01",
"prompt": "Based on typical prediction rules, is this variant likely to result in nonsense mediated decay? Answer yes or no."
} | No | At the end of the last exon, after the main domain | [
"Other"
] | [] | null | |
AITX-00016 | {
"clinical_context": "Malignant Peripheral Nerve Sheath Tumor and Pheochromocytoma",
"genotype": [
{
"gene": "NF1",
"transcript": "NM_001042492.3",
"variant_cdna": "c.3728T>C",
"variant_protein": "p.(Leu1243Pro)",
"zygosity": "heterozygous"
}
]
} | {
"answer_format": "multiple_choice",
"category": "Variant_Assessment",
"date_submitted": "2025-08-01",
"prompt": "In which functional domain does this variant occur? Answer choices: CSRD, TBD, GRD, Sec14-PH, HLR, NLS, SBR."
} | GRD | GRD, GAP related domain (1198–1549 residues) | [
"PubMed/Literature"
] | [
"https://www.mdpi.com/2073-4425/13/7/1130#"
] | null |
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