Table 3.
Confirming the candidacy of previously reported candidates
| ID | Variant | Zygosity | Observed phenotype | Reported tentative link to human disease | Reference |
|---|---|---|---|---|---|
| 16N-0355 | CHRNB2: NM_000748:exon4:c.256-1G>A | Het | Global developmental delay with neuroregression, microcephaly, brain atrophy–temporal lobe atrophy, dystonia, hypertonia, hepatic failure, poor vision | Missense variants in autosomal dominant nocturnal frontal lobe epilepsy | PMID: 7895015 |
| 16N-0554 | TRAF3IP2:NM_001164283:exon4:c.200G>C:p.W67S | Hom | Severe eczema | Severe eczema | In press |
| 16N-0247 | KMT2C:NM_170606:exon36:c.6589C>A:p.Q2197 K | Het | ID | Autism | PMID: 27632392 |
| 16N-0255 | DENND4B:NM_014856:exon18:c.2702_2703insGCAGC:p.Q901 fs | Het | Cleft palate | Cleft palate | PMID: 25441681 |
| 16W-0129 | TRMT1:NM_001142554:exon10:c.1245_1246del:p.L415 fs | Hom | ID | ID | PMID: 26308914 |
| 16W-0191 | MCTP2:NM_001159644:exon5:c.384dupT:p.N128 fs | Hom | Severe congenital heart disease, failure to thrive, developmental delay and nephrotic syndrome | Autosomal dominant coarctation of the aorta | PMID: 23773997 |
| 16-2552 | ELOVL4:NM_022726:exon5:c.575A>G:p.H192R | Hom | Contractures, ichthyosis, failure to thrive, microcephaly, fine/gross motor delay, speech delay, spasticity, seizures, optic atrophy, prematurity 34 wks, Sjogren Larsson | Ichthyosis and spastic encephalopathy | PMID: 22100072 |
| 16-2564 | CHD8:NM_001170629:exon26:c.4984C>T:p.R1662X | Het | Fine/gross motor delay, speech delay, learning disability, developmental regression, autistic feature | Autism | PMID: 25961944 |
| 16W-0261 | ADIPOR1:NM_001290553:exon4:c.346C>A:p.P116T | Hom | ID, microcephaly, global developmental delay, ataxia | ID | PMID: 28097321 |
| 16W-0143 | CCDC82:NM_024725:exon5:c.904G>T:p.D302Y | Hom | Brain atrophy, suspected white matter disease, ataxia, spasticity, muscle weakness | ID | PMID: 27457812 |
| 16-2460 | CEP97:NM_001303401:exon11:c.1737G>A:p.W579X | Het | Primordial short stature and hearing deficit, growth parameters below 5th percentile, developmental delay mainly speech delay as well as behavioral disturbances (ADHD), small facial bones, kyphosis in cervical spine and sacrum, coxa valga, and DDH, generalized osteopenia, clinodactyly | ID, solitary kidney, brachydactyly (4th and 5th toes), facial dysmorphism. | PMID: 26539891 |