Table 4.
Clinical implications of molecular diagnoses.
| Gene | No. cases | Clinical implication |
|---|---|---|
| GJB2 | 22 | Discharged to routine care, no MRI brain, ECG or ophthalmology |
| MY015A | 5 | Discharged to routine care, no MRI brain, ECG or ophthalmology |
| STRC | 4 | Discharged to routine care, no MRI brain, ECG or ophthalmology |
| OTOA | 1 | Discharged to routine care, no MRI brain, ECG or ophthalmology |
| TECTA | 1 | Discharged to routine care, no MRI brain, ECG or ophthalmology |
| COCH | 1 | Discharged to routine care, no MRI brain, ECG or ophthalmology |
| LOXHD1 | 1 | Discharged to routine care, no MRI brain, ECG or ophthalmology |
| PDZD7 | 1 | Discharged to routine care, no MRI brain, ECG or ophthalmology |
| OTOG | 1 | Discharged to routine care, no MRI brain, ECG or ophthalmology |
| ESRRB | 1 | Discharged to routine care, no MRI brain, ECG or ophthalmology |
| SLC26A4 | 5 | Thyroid function monitoring, avoidance of contact sport/barotrauma, MRI brain |
| GATA3 | 1 | Annual blood test, renal US, endocrinology clinic, renal clinic, vitamin D |
| USH2A | 1 | Annual ophthalmology, ERG |
| MYO7A | 1 | Annual ophthalmology, ERG |
| ELN | 1 | Ophthalmology, annual urinalysis, bi-annual serum calcium, thyroid function, ongoing cardiology surveillance |
| TGFBR2 | 1 | Cardiac surveillance |
| SPTB | 1 | Bone marrow transplant |
| COL2A1 | 1 | Laser eye treatment to prevent retinal detachment |
| ERCC6 | 1 | Life-limiting condition, avoid metronidazole and sun exposure |
| SDHA | 1 | Life-limiting condition, carriers have cancer risk and will commence screening |
| PIGN | 1 | Life-limiting condition |
| SON | 1 | Early internvetion for moderate-severe intellectual disability |
MRI magnetic resonance imaging, ECG electrocardiogram, US ultrasound, ERG electroretinogram