Table 3.
Clinical testing and whole‐exome sequencing (WES) outcome of patient cohort
| Disorder | Sanger sequencing (individual genes) | Sanger sequencing (gene panels) | MLPA and expansion testing | Status | WES diagnosis |
|---|---|---|---|---|---|
| Early‐onset generalized dystonia | PRKRA, THAP1, DYT1, GCH1, MERRF, APTX | SCA, DRPLA | Solved (known gene) | ATM | |
| Neonatal epileptic encephalopathy | CSTB | Myoclonus epilepsy panel (4), Neuronal ceroid lipofuscinosis panel (8) | CSTB, DRPLA | Solved (known gene) | ASAH1b |
| Nuclear encoded mitochondrial disorder | TAZ, SCN5A | Dilated cardiomyopathy panel (27) | Solved (known gene) | GARSc | |
| Muscular dystrophy NYD | COL6A1 | Congenital muscular dystrophies panel (3), Limb‐girdle muscular dystrophy panel (9) | Solved (known gene) | COL6A1a | |
| Emery–Dreyfuss phenotype | EMD, LMNA | Solved (known gene) | COL6A1 | ||
| Hennekam‐like syndrome | CCBE1 | Solved (known gene) | KMT2A | ||
| Cerebellar ataxia | SYNE1, SACS | Solved (known gene) | CACNA1A | ||
| Mitochondrial disorder | Austosomal recessive ataxia panel (6) | Solved (known gene) | ITPR1 | ||
| Limb‐girdle muscular dystrophy with triangular tongues | Limb‐girdle muscular dystrophy panel (10) | Solved (novel gene) | LIMS2d | ||
| Hereditary leg dominant quadriparesis | MCOLN1, KIAA1840, ZFYVE26 | Solved (novel gene) | DDHD2e | ||
| Developmental delay and hereditary spastic paraplegia | APTX, EIF2B1/2/3/4/5, GALC, GJC2 | Hereditary spastic paraplegia panel (10), Neuronal ceroid lipofuscinosis panel (8) | Candidate (novel gene) | SYNJ2 | |
| Muscular dystrophy, congenital, with cerebellar atrophy | KCNC3, SACS, APTX, SETX, POLG1, SIL1, TTPA | SCA, DRPLA, FXN, FMR1 | Analysis | – | |
| Coloboma‐ectodermal hypotonia | PORCN | Congenital muscular dystrophies panel (4) | Analysis | – | |
| Ataxia | PLEKHG4, SPTBN2 | Analysis | – | ||
| Hereditary spastic paraplegia, intellectual disability, thin corpus callosum | ZFYVE26, KIAA1840, PANK2 | Hereditary spastic paraplegia panel (6) | Unsolved | – | |
| Fitzsimmons–Guilbert syndrome | SACS | Unsolved | – | ||
| Alternating hemiplegia | ATP1A3, ATP1A2, CACNA1A, KCNA1, CACNB4, SLC1A3 | Unsolved | – | ||
| Distal myopathy | FHL1, CRYAB, DES, MYH7, GNE, FSHD | Limb‐girdle muscular dystrophy panel (13) | Unsolved | – | |
| Joubert syndrome | Joubert/Meckel–Gruber syndrome panel (8) | Unsolved | – | ||
| Hereditary sensory autonomic neuropathy with developmental delay | FAM134B, HSN2 | Unsolved | – | ||
| Congenital myasthenia | Congenital myasthenic syndrome panel (9) | OPMD | Unsolved | – | |
| Rapidly progressive myopathic disorder | DMD, COL6A2, GAA, SEPN1, TK2 | Congenital myasthenic syndrome panel (5), Mitochondrial panel, Limb‐girdle muscular dystrophy panel (9) | FHSD | Unsolved | – |
| Mitochondrial disorder | DGUOK, SCO2, SURF1, UGT1A1, FASTKD2, COX10, COX6B1, COX15, SCO1 | Unsolved | – | ||
| Basal ganglia strokes | Neuronal ceroid lipofuscinosis panel (8) | Unsolved | – | ||
| Charcot–Marie‐Tooth disease | TRPV4 | Unsolved | – | ||
| Charcot–Marie‐Tooth disease | HMBS, AIFM1, GJB1, SLC12A6 | SMN1 | Unsolved | – |