Table 3.
Genes with high pLI scores (> 0.8) that are deleted or potentially disrupted for which there is currently insufficient evidence to support an association with EA/TEF
| Gene (pLI score) | Disorder, MIM# | Subject ID, CNV type | EA/TEF-specific pathogenicity score | Other cases of EA/TEF reported for this gene/disorder in humans |
|---|---|---|---|---|
|
BRPF1 (pLI = 1) |
Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333 | S35, Deletion | 47.6% | No/No |
|
FUBP1
(pLI = 1) |
None | S34, Deletion | 59.9% | No/N/A |
|
GLRA2† (pLI = 0.97) |
Intellectual developmental disorder, X-linked, syndromic, Pilorge type, MIM# 301076 | S45, Deletion | 61.5% | No/N/A |
|
LARGE1 (pLI =0.99) |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840 | S44, Deletion | ND | No/No |
|
LINGO2
(pLI = 0.86) |
None | S38, Deletion | 0.7% | No/N/A |
|
MOSPD2† (pLI = 0.99) |
None | S45, Deletion | 63.3% | No/N/A |
|
NRDC (pLI = 1) |
None | S33, Deletion | ND | No/N/A |
|
USP33
(pLI = 0.82) |
None | S34, Deletion | 58.5% | No/N/A |
|
SVEP1 (pLI = 1) |
None | S39, Deletion | 91% | No/N/A |
|
TMEM108
(pLI = 1) |
None | S36, Deletion | 84.4% | No/N/A |
|
ZFYVE9 (pLI = 0.9) |
None | S33, Deletion | 89.1% | No/N/A |
|
ZNF592
(pLI = 1) |
None | S42, Deletion | 38.8% | No/N/A |
|
ZZZ3 (pLI = 1) |
None | S34, Deletion | 45.5% | No/N/A |
|
DIO2 (pLI = 0.96) |
None | S53, Breakpoint of Duplication | 40.9% | No/N/A |
|
FLNA (pLI = 1) |
FLNA-related disorders, MIM# 300321, 314400, 300048, 305620, 300049, 300048, 309350, 311300, 304120, 300244 | S59, Breakpoint of Duplication | 74.3% | No/No |
|
GMDS (pLI = 0.99) |
None | S49, Breakpoint of Duplication | 7.3% | No/N/A |
|
OTUD7A (pLI = 0.95) |
None | S55, Breakpoint of Duplication | 11.8% | No/N/A |
|
PACS1 (pLI = 1) |
Schuurs-Hoeijmakers syndrome, MIM# 615009 | S51, Breakpoint of Duplication | 79.5% | No/No |
|
PDE4D (pLI = 1) |
Acrodysostosis 2, with or without hormone resistance, MIM# 614613 | S48, Breakpoint of Duplication | 73.8% | No/No |
|
RORA (pLI = 1) |
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060 | S56, Breakpoint of Duplication | 80.9% | No/No |
|
SART1 (pLI = 0.88) |
None | S51, Breakpoint of Duplication | 19.4% | No/N/A |
†
Found in a male previously reported by Umana et al. who carried a deletion of FANCB (Umana et al., 2011).
N/A = not applicable, ND = not determined