NM_018489.2:c.4985-2539C>T

Report protein consequencep.(?)

Protein mappingProtein consequence unresolved; not placed on the protein map — The report uses NM_018489.2. A conversion to the shared NM_018489.3 transcript has not been established for this deep-intronic result.

A boy in the 6–10 age group whose history includes premature birth and neonatal illness, severe bilateral retinopathy of prematurity with retinal detachments and lasting visual disability, global developmental differences, and a family-reported loss of previously used spoken words. His family also describes constipation, intermittent sleep difficulty, and substantial dental treatment. He walks, and his family continues seeking a clearer understanding of his communication changes and medical needs. The 2025 genome analysis did not identify a clinically relevant variant explaining the submitted phenotype. The ASH1L deep-intronic finding and a separate RAC3 finding remain variants of uncertain significance. This is a history associated with an uncertain ASH1L result, not a confirmed ASH1L-related molecular diagnosis.

Profile at a glance

27 sections · 5 chapters

Zygosity: Heterozygous
Molecular consequence: Deep-intronic / protein consequence unresolved
Laboratory classification: Variant of uncertain significance
Classification source: CentoGenome report, May 2025; family-reviewed summary
Inheritance: Not established
Relevant additional finding: RAC3 VUS; PALB2 pathogenic secondary predisposition finding; PYGM heterozygous carrier finding. Each is described separately.
Variant type: Deep-intronic / noncoding
Sex: Male
Age group: Ages 6–10
Protein position: No single protein position

The family reported a formal laboratory classification of variant of uncertain significance; the original report was not reviewed for this public profile. The molecular result anchors this profile; the longitudinal history preserves the individual pattern across systems, abilities, and time.

ASH1L LONGITUDINAL CASE PROFILE

Report transcript + cDNA

NM_018489.2:c.4985-2539C>T

Report protein consequencep.(?)

Profile at a glance

27 sections · 5 chapters

Zygosity: Heterozygous
Molecular consequence: Deep-intronic / protein consequence unresolved
Laboratory classification: Variant of uncertain significance
Classification source: CentoGenome report, May 2025; family-reviewed summary
Inheritance: Not established
Relevant additional finding: RAC3 VUS; PALB2 pathogenic secondary predisposition finding; PYGM heterozygous carrier finding. Each is described separately.
Variant type: Deep-intronic / noncoding
Sex: Male
Age group: Ages 6–10
Protein position: No single protein position

NM_018489.2:c.4985-2539C>T

NM_018489.2:c.4985-2539C>T

A child beyond the test result

The route through genetic testing

The ASH1L result and its limits

Three separate additional findings

Developmental descriptions across the records

Pregnancy and birth

Breathing, jaundice, and early feeding

The neonatal infection history

Early retinal findings and urgent referrals

Eye surgery and later deterioration

Chronic ocular findings and visual-pathway testing

The spoken words his family remembers

The family-reported change around age six

Seizure questions and the available EEG

Brain imaging and differing clinical terminology

Walking, tone, and orthopedic history

Autism, sensory experience, and access to communication

Digestion and bowel function

Sleep and melatonin

Teeth and oral care

Hearing, breathing, and cardiac findings

Growth, nutrition, immunity, and other systems

Medication, procedures, and proposed treatments

Participation and everyday support

The family’s search for answers

What remains unresolved

Holding the full history together