From: Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech
Participants | Genes | Total depth coverage | Impact | Nucleotide description | Protein position | Associated phenotype | Functional association | Report category |
---|---|---|---|---|---|---|---|---|
1 | ATP13A4 | 43 | NS damaging | g.1938A>T | p.Glu646Asp | ASD, CAS | Postulated roles in the developing nervous system and early neuronal development | VUS |
 | KIAA0319 | 96 | NS damaging | c.931G>A | p.Ala311Thr | Developmental dyslexia, SLI | Adhesion between migrating neurons radial glial fibers | VUS |
2 | ATP13A4 | 59 | NS damaging | g.1938A>T | p.Glu646Asp | ASD, CAS | Postulated roles in the developing nervous system and early neuronal development | VUS |
3 | No reportable findings | Â | Â | Â | Â | Â | Â | Â |
4 | CNTNAP2 | 39 | Splice consensus | c.3714-7insTTG | N/A | Intellectual delay, ASD, CAS | Local differentiation of axons into distinct functional subdomains | VUS |
 | ATP13A4 | 63 | NS damaging | g.1938A>T | p.Glu646Asp | ASD, CAS | Postulated roles in the developing nervous system and early neuronal development | VUS |
5 | No reportable findings | Â | Â | Â | Â | Â | Â | Â |
6 | CNTNAP2 | 52 | NS damaging | c.511C>T | p.Arg171Cys | Intellectual delay, ASD, CAS | Local differentiation of axons into distinct functional subdomains | Likely pathogenic |
7 | CNTNAP1 | 10 | NS damaging | c.3191G>A | p.Arg1064Gln | No human phenotype | Formation and maintenance of neuronal cell connections | VUS in GUS |
8 | FOXP1 | 15 | NS damaging | c.320T>C | p.Ile107Thr | Developmental delay, expressive language deficits, ASD | Regulation of gene transcription during development | Likely pathogenic |
9 | KIAA0319 | 112 | NS damaging | c.931G>A | p.Ala311Thr | Developmental dyslexia, SLI | Adhesion between migrating neurons and radial glial fibers | VUS |
 | SETX | 191 | NS damaging | g.2975A>G | p.Lys992Arg | AOA2 | Suggested to be involved with DNA and RNA processing | VUS in GUS |
10 | CNTNAP2 | 39 | Splice consensus | c.3714-7insTTG | N/A | Intellectual delay, ASD, CAS | Local differentiation of axons into distinct functional subdomains | VUS |
 | KIAA0319 | 80 | NS Damaging | c.931G>A | p.Ala311Thr | Developmental dyslexia, SLI | Adhesion between migrating neurons and radial glial fibers | VUS |