PRINTABLE CLINICIAN VIEW
Clinician orientation sheet
NM_018489.3:
Concise orientation only. Dates, normal findings, uncertainty, source boundaries, and longitudinal context remain in the complete profile.
Molecular result and profile context
- Report transcript + cDNA
- NM_018489.3:c.4039_4043del
- Report protein consequence
- p.Lys1347Glufs*7
- Zygosity
- Heterozygous
- Molecular consequence
- Frameshift with premature termination
- Laboratory classification
- Pathogenic
- Classification source
- Original report reviewed
- Inheritance
- Not established
- Relevant additional finding
- Not reported in this public profile
- Normalized MANE/map notation
- NM_018489.3:c.4039_4043del · NP_060959.2:p.Lys1347Glufs*7
- Variant type
- Frameshift
- Sex
- Female
- Age group
- Ages 6–10
- Protein position
- First altered residue · aa 1,347
Approved public summary
A girl in the 6–10 age group whose family describes major gains in communication, social connection, play, attention, and school participation alongside sustained therapy and support. Her history includes a neuropsychological profile described as compatible with intellectual disability and ADHD, predominantly inattentive presentation; intense distress when plans change or limits are set; polysomnography-confirmed sleep apnea dominated by obstructive events; ongoing ENT reassessment of her adenoid and tonsils; a left periventricular nodular heterotopia documented on brain MRI; diffuse epileptiform activity on EEG without any convulsive seizures witnessed by her family; feeding difficulty; and a fine finger tremor that has become barely noticeable with occupational therapy.