[{"id":"AITX-40001","patient":{"genotype":[{"gene":"ACTL6B","transcript":"NM_016188.5","variant_cdna":"c.1099dup","variant_protein":"p.(Gln367ProfsTer48)","zygosity":"homozygous"}],"clinical_context":"A 3-year-old male presented with seizure onset in the first months of life, developmental delay, and impaired intellectual development."}},{"id":"AITX-40002","patient":{"genotype":[{"gene":"ITPR1","transcript":"NM_001378452.1","variant_cdna":"c.100G>A","variant_protein":"p.Asp34Asn","zygosity":"heterozygous"}],"clinical_context":"7-year-old male with history of hypotonia, mild motor delay, nystagmus, spasticity, and episodes of tremors. These episodes began during childhood. Family reports that tremor episodes seem to be happening more frequently and with greater intensity as he is getting older. Trio genetic testing was performed, which revealed a de novo variant in ITPR1."}},{"id":"AITX-40003","patient":{"genotype":[{"gene":"SPTLC1","transcript":"NM_006415.4","variant_cdna":"c.116T>A","variant_protein":"p.Leu39His","zygosity":"heterozygous"}],"clinical_context":"The individual is a 14 year old male with slowly progressive loss of sensation in their lower extremities. They initially had good growth but around 10 years of age began losing weight and now appear very thin. Their caloric intake is poor. They have a positive Gower sign."}},{"id":"AITX-40004","patient":{"genotype":[{"gene":"SYT1","transcript":"NM_005639.3","variant_cdna":"c.1103T>C","variant_protein":"p.Ile368Thr","zygosity":"heterozygous"}],"clinical_context":"18-month-old female with Baker Gordon Syndrome (BAGOS) (OMIM #618218) who presented at 8 months of age with hypotonia, ophthalmic abnormalities, developmental delay, EEG abnormalities (without overt seizures) and a de novo, monoallelic SYT1 variant that likely acts via a dominant negative mechanism."}}]