Table 5.
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 |
|
|
|
|
|
|
|
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 |
|
|
|
|
|
|
|
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 |
aAOA2, Ataxia and oculomotor apraxia type 2; ASD, Autism spectrum disorder; CAS, Childhood apraxia of speech; GUS, genes of uncertain significance; NS, nonsynonymous; SLI, specific language impairment; VUS, variants of uncertain significance.