Table 1.
SNVs and CNVs affecting the function of TBR1 newly reported and reported in the literature.
| SNVs’ individuals/references | Sequencing method | cDNA (NM_006593.2) | Inheritance | Amino acid | ClinVar ID |
|---|---|---|---|---|---|
| O’Roak et al. [14] PMID: 22495309 | Trio ES | c.405delC | De novo | p.Ala136Profs*80 | – |
| Individual 1 | Cognitive disorders panel 275 genes | c.471delC | NA | p.(Tyr157*) | SCV000747902.1 |
| Individual 2 | ID panel 44 genes | c.553C>T | De novo | p.(Gln185*) | Submitted |
| Individual 3 | Solo ES | c.673A>T | De novo | p.(Ile225Phe) | SCV000747903.1 |
| O’Roak et al. [15] PMID: 23160955 | MIP 13814.p1 | c.682A>G | De novo | p.Lys228Glu | – |
| Individual 4 | Cognitive disorders panel 275 genes | c.713_719del | De novo | p.(Ser238Thrfs*17) | SCV000747904.1 |
| Individual 5 | Solo ES | c.811T>C | De novo | p.Trp271Arg | SCV000747905.1 |
| Hamdan et al. [18] PMID:25356899 | Trio ES | c.811T>C | De novo | p.Trp271Arg | – |
| Individual 6 | ID panel 285 genes | c.812G>C | De novo | p.(Trp271Ser) | SCV000747906.1 |
| O’Roak et al. [16] PMID: 25418537 | MIP | c.813G>T | De novo | p.Trp271Cys | SCV000863780.2 |
| Individual 7 | ID panel 16 genes | c.844C>T | De novo | p.(Gln282*) | SCV000747907.1 |
| Individual 8 | Solo ES | c.896G>A | De novo | p.(Trp299*) | SCV000747908.1 |
| McDermott et al. [21] PMID 29288087 | Trio ES | c.932T>C | De novo | p.(Leu311Pro) | – |
| Individual 9 | Trio ES | c.933_934insCAAAGGA | De novo | p.(Thr312Glnfs11*) | Submitted |
| McDermott et al. [21] PMID 29288087 | Trio ES | c.946G>T | De novo | p.(Gly316*) | – |
| O’Roak et al. [15] PMID: 23160955 | MIP 13796.p1 | c.1049dup | De novo | p.Ser351* | – |
| Individual 10 | Trio ES | c.1105_1113delGTCACCGCC | De novo | p.(Val369_Ala371del) | Submitted |
| Individual 11 | Trio ES | c.1118A>G | De novo | p.(Gln373Arg) | SCV000747909.1 |
| Gilissen et al. [17] PMID:24896178 | Trio GS | c.1118A>G | De novo | p.(Gln373Arg) | – |
| Neale et al. [13] PMID: 22495311 | Trio ES | c.1120A>C | De novo | p.Asn374His | – |
| Individual 12 | Trio ES | c.1155C>G | De novo | p.(Asn385Lys) | SCV000747910.1 |
| O’Roak et al. [16] PMID: 25418537 | MIP | c.1165A>G | De novo | p.(Lys389Glu) | SCV000863781.1 |
| Individual 13 | Autism/ID panel 2308 genes | c.1177dupG | De novo | p.(Asp393Glyfs*2) | SCV000747911.1 |
| Individual 14 | Cognitive disorders panel 456 genes | c.1369_1371delinsCA | De novo | p.(Thr457Glnfs*30) | SCV000747912.1 |
| Individual 15 | Solo ES | c.1588_1594dup | De novo | p.(Thr532Argfs*144) | SCV000747913.1 |
| Individual 16 | Trio ES | c.1588_1594dup | De novo | p.(Thr532Argfs*144) | SCV000965704.1 |
| Individual 17 | GS | c.1588_1594dup | De novo | p.(Thr532Argfs*144) | SCV000747914.1 |
| Individual 18 | Trio ES | c.1588_1594dup | De novo | p.(Thr532Argfs*144) | Submitted |
| Individual 19 | Trio ES | c.1588_1594dup | De novo | p.(Thr532Argfs*144) | SCV000747915.1 |
| Individual 20 | Trio ES | c.1588_1594dup | De novo | p.(Thr532Argfs*144) | Submitted |
| Gilissen et al. [17] PMID:24896178 | Trio GS | c.1588_1594dup | De novo | p.(Thr532Argfs*144) | – |
| Vegas et al. [22] PMID 30268909 | Trio ES | c.1588_1594dup | De novo | p.(Thr532Argfs*144) | SCV000863782.1 |
| Individual 21 | Trio ES | c.1635_1644dup | De novo | p.(Ser549Glyfs*128) | Submitted |
| Individual 22 | Solo ES | c.1639_1648dup | De novo | p.(Pro550fs*127) | SCV000747916.1 |
| Individual 23 | Trio ES | c.1652dup | De novo | p.(Gln552Alafs*122) | SCV000891709.1 |
| Individual 24 | Cognitive disorders panel 456 genes | c.1653_1654del | De novo | p.(Gln552Valfs*121) | SCV000747918.1 |
| CNVs’ Individuals/reference | Method | Size | Coordinates | Band | Genes encompassed in the deletion | Transmission | ClinVar ID |
|---|---|---|---|---|---|---|---|
| Individual 25 | CGH |
Min: 461.24 kb Max: 549.18 kb |
chr2:g.(161927809_161967492)_(162428730_162476985) | 2q24.2 | TANK, PSMD14, TBR1 | De novo | SCV000747921.1 |
| Palumbo et al. [20] PMID:24458984 | SNP | 122 kb | chr2:g.(162269888–162391666) | 2q24.2 | TBR1 | De novo | – |
CNVs copy number variants, ES exome sequencing, GS genome sequencing, ID intellectual deficiency, MIP molecular inversion probe, NA not available, SNVs single nucleotide variants.