Categorization | Current study | Theunissen et al. [10] | Kohda et al. [9] | Pronicka et al. [8] | Wortmann et al. [7] |
---|---|---|---|---|---|
Neuronal diseases | ATP1A3 ALDH5A1 ARX FA2H KCNT1 NEFL NKX2-2 TBCK WAC | IER3IP1 IARS CHRNE SLC16A2 | MECP2 | ADAR CACNA1A CLN3 DMD DYSF GBE1 GFAP HSD17B4 MECP2 MYBPC1 PGAP2 | ARID1B SCN1A ASPM CTNNB KDM6A SMARCA4 SETBP1 ACTA1 NGLY1 ALDH4A1 RAPSN COL4A1 TBR1 |
Eye diseases | Â | HPS1 | Â | Â | Â |
Metabolic diseases | LDHD | Â | Â | Â | Â |
Haematological diseases | Â | BICD2 | Â | CPS1 PRF1 SBDS | Â |
Cardiological diseases | Â | Â | TNNI3 | Â | Â |
Nephrological disease | Â | Â | Â | PIGN | SLC3A1 |
Endocrine diseases | NKX2-2 | Â | Â | Â | Â |
Not found in GeneAnalytics | Â | Â | Â | PEXS | CTNNB SEPN1 |
Diagnostic yield in non-MD genes | 18% (12/66) | 6% (5/86) | 2% (3/142) | 17% (19/113) | 19% (21/109) |