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Clinician orientation sheet
arr[GRCh38]
Concise orientation only. Dates, normal findings, uncertainty, source boundaries, and longitudinal context remain in the complete profile.
Molecular result and profile context
- Report genomic array result
- arr[GRCh38] 1q22(155454274_155539091)x1
- Affected ASH1L region
- ASH1L exons 2–4 of 28 · NM_018489.3
- Zygosity
- Not stated
- Molecular consequence
- Intragenic copy-number deletion
- Laboratory classification
- Pathogenic
- Classification source
- Original report reviewed
- Inheritance
- De novo
- Inheritance source
- Family-confirmed parental testing
- Genomic and gene-level notation
- GRCh38 1q22:155454274–155539091 · ASH1L NM_018489.3 exons 2–4 of 28
- Variant type
- Deletion / CNV
- Sex
- Female
- Age group
- Ages 11–15
- Protein position
- No single protein position
Approved public summary
A girl in the 11–15 age group with a confirmed de novo pathogenic intragenic deletion affecting ASH1L exons 2–4. Her history includes intellectual disability, autism, delayed motor and language development, substantial communication and learning needs, childhood sleep and hearing difficulties, lifelong farsightedness and accommodative esotropia, tall stature with delayed skeletal maturation and pubertal development, genu valgum, bilateral hallux valgus requiring staged surgery, and scoliosis. She is also a future-minded young person who uses technology to communicate, continues building literacy and everyday skills, and talks about having a job and obtaining a driver’s licence.