Table 1.
MED13L variants of the in-person cohort
| ID | Variant (NM_015335.4) | Type | Inheritance | Classification | Age at Diagnosis |
|---|---|---|---|---|---|
| F1S1a | c.5990dup,p.Leu1997Phefs*19 | LoF | De novo | Pathogenic | 3y8m |
| F2S1 | c.401dup,p.Met135Asnfs*3 | LoF | De novo | Pathogenic | 2y5m |
| F3S1a | c.5471del,p.Asn1824Metfs*28 | LoF | Inherited—Paternal (somatic mosaic; 7% of reads) | Pathogenic | 3y8m |
| F4S1a | c.2597C > T,p.Pro866Leu | Missense | De novo | Pathogenic | 0y7m |
| F5S1a | arr[GRCh37] 12q24.21(116,519,929–116,553,225) × 1 | Deletion | Unknown | Pathogenic | 17y6m |
| F6S1a | c.6556C > T,p.Gln2186* | LoF | De novo | Likely Pathogenic | 2y11m |
| F7S1a | c.3469C > T,p.Gln1157* | LoF | De novo | Pathogenic | 2y9m |
| F8S1a | arr[GRCh37] 12q24.21(116,673,140–116,676,995) × 1 | Deletion | De novo (germline mosaicism inferred) | Pathogenic | 4y10m |
| F8S2a | arr[GRCh37] 12q24.21(116,673,140–116,676,995) × 1 | Deletion | De novo (germline mosaicism inferred) | Pathogenic | 6y6m |
| F9S1 | c.4077G > A,p.Trp1359* | LoF | De novo | Pathogenic | 5y8m |
| F10S1 | arr[GRCh37] 12q24.21(116476163_116619234) × 1 | Deletion | De novo | Pathogenic | 1y6m |
| F11S1a | arr[hg18] 12q24.21(114,895,862–115,110,038) × 1 | Deletion | De novo | Pathogenic | 3y0m |
| F12S1a | c.4609C > T,p.Gln1537* | LoF | De novo | Pathogenic | 1y5m |
| F13S1a | c.4403dup,p.Thr1470Asnfs*9 | LoF | De novo | Pathogenic | 6y7m |
| F14S1a | c.1690C > T,p.Arg564* | LoF | De novo (germline mosaicism inferred) | Pathogenic | 5y0m |
| F14S2a | c.1690C > T,p.Arg564* | LoF | De novo (germline mosaicism inferred) | Pathogenic | 1y10m |
| F15S1 | c.6488C > T,p.Ser2163Leu | Missense | De novo | Likely Pathogenic | 13y2m |
Abbreviations: LoF loss of function, y years, m months
aIndividuals also completed some aspects of Simons Searchlight virtual assessment protocol