Table 1 Cases with variants of possible clinical significance in known disease genes
From: Targeted resequencing identifies genes with recurrent variation in cerebral palsy
Sample | Gene | Inheritance | gnomAD frequency | Variant | dbSNP ID, ACMG classification |
|---|---|---|---|---|---|
P009a | MAST1 | De novo | 0 | c.1499C>T:p.P500Lb | Likely pathogenic |
P015a | PAK3 | X-linked | 0 | c.1477C>T:p.R493Cb | Uncertain significance |
P026a | KDM5C | De novo | 0 | c.1238C>T:p.P413Lb | rs1057518697 Pathogenic |
P033a | COL4A1 | Paternal | 0 | c.2413G>A:p.G805R | Pathogenic |
P035a | COL4A1 | Not maternal | 8.12E−06 | c.136G>A:p.G46R | Uncertain significance |
P052a | PROC | Paternal | 2.53E−05 | c.169C>T:p.R57W | rs757583846 Pathogenic |
Maternal | 2.53E−05 | c.814C>T:p.R272C | rs121918154 Pathogenic | ||
P106a | COL4A1 | Paternal | 0 | c.4516A>G:p.N1506D | Uncertain significance |
P174 | KIF1A | Not maternal, father unavailable | 0 | c.296C>T:p.T99M | rs387906799 Pathogenic |
P204 | COL4A1 | Not maternal | 0 | c.2494G>A:p.G832R | rs797044867 Pathogenic |
P718 | NT5C2 | Homozygous—identical by descent | 0 | c.115C>T:p.R39* | Pathogenic |
P724 | L1CAM | X-linked | 0 | c.2137C>T:p.P713S | Likely pathogenic |
P773 | MAST1 | Not maternal | 8.12E−06 | c.1066G>A:p.D356N | Uncertain significance |
P781 | KIF1A | De novo | 0 | c.946C>T:p.R316W | rs672601370 Pathogenic |
P904 | SCN8A | De novo, also present in identical twin | 4.06E−06 | c.4724C>T:p.A1575V | Uncertain significance |
P915 | HUWE1 | Not maternal, also present in twin | 5.60E−06 | c.6391T>A:p.L2131M | Likely benign |
P968 | BRWD3 | Unknown | 0 | c.3088G>A:p.V1030I | Uncertain significance |
P981 | COL4A1 | Not maternal | 6.63E−05 | c.2447C>T:p.P816L | Uncertain significance |
P1102 | HUWE1 | Paternal | 1.69E−05 | c.8558A>T:p.E2853V | Uncertain significance |
P1116 | COL4A1 | Maternal | 7.21E−05 | c.4856G>A:p.R1619H | Uncertain significance |
P1147 | IQSEC2 | Paternal | 0 | c.1753C>T:p.R585W | Likely benign |
10249 | HUWE1 | Unknown | 5.60E−06 | c.6500C>T:p.A2167V | Uncertain significance |
10894 | SYNGAP1 | Not maternal | 0 | c.3436C>G:p.P1146A | Uncertain significance |
14986 | MAST1 | Paternal | 1.44E−05 | c.421G>A:p.E141K | Uncertain significance |
