1 |
|
Capicua Transcriptional Repressor |
Protein Coding |
750 |
Pathogenic
5
Causative germline mutation (loss of function)
58
|
|
2 |
|
Clathrin Heavy Chain |
Protein Coding |
750 |
Pathogenic
5
Causative germline mutation
58
|
|
3 |
|
Glutamate Ionotropic Receptor NMDA Type Subunit 2B |
Protein Coding |
750 |
Pathogenic
5
Causative germline mutation
58
|
|
4 |
|
Transient Receptor Potential Cation Channel Subfamily M Member 3 |
Protein Coding |
750 |
Pathogenic
5
Causative germline mutation
58
|
|
5 |
|
Casein Kinase 2 Beta |
Protein Coding |
375 |
Causative germline mutation (loss of function)
58
Likely pathogenic
5
|
|
6 |
|
ADP Ribosylation Factor 3 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
7 |
|
ASH1 Like Histone Lysine Methyltransferase |
Protein Coding |
350 |
Causative germline mutation
58
|
|
8 |
|
BR Serine/Threonine Kinase 2 |
Protein Coding |
350 |
Causative germline mutation (loss of function)
58
|
|
9 |
|
Calcium Voltage-Gated Channel Subunit Alpha1 I |
Protein Coding |
350 |
Causative germline mutation
58
|
|
10 |
|
Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 2 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
11 |
|
Calcium/Calmodulin Dependent Protein Kinase II Alpha |
Protein Coding |
350 |
Causative germline mutation
58
|
|
12 |
|
Calcium/Calmodulin Dependent Protein Kinase II Beta |
Protein Coding |
350 |
Causative germline mutation
58
|
|
13 |
|
Cadherin 15 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
14 |
|
Chromosome Alignment Maintaining Phosphoprotein 1 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
15 |
|
Cut Like Homeobox 1 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
16 |
|
DEAF1 Transcription Factor |
Protein Coding |
350 |
Causative germline mutation
58
|
|
17 |
|
Delta Like Canonical Notch Ligand 1 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
18 |
|
Dedicator Of Cytokinesis 8 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
19 |
|
Dynein Cytoplasmic 1 Heavy Chain 1 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
20 |
|
Eukaryotic Translation Elongation Factor 1 Alpha 2 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
21 |
|
Erythrocyte Membrane Protein Band 4.1 Like 1 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
22 |
|
Erb-B2 Receptor Tyrosine Kinase 4 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
23 |
|
Glutamate Ionotropic Receptor AMPA Type Subunit 1 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
24 |
|
Glutamate Ionotropic Receptor NMDA Type Subunit 1 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
25 |
|
HIVEP Zinc Finger 2 |
Protein Coding |
350 |
Causative germline mutation (loss of function)
58
|
|
26 |
|
Intersectin 1 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
27 |
|
Potassium Voltage-Gated Channel Subfamily Q Member 2 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
28 |
|
Potassium Voltage-Gated Channel Subfamily Q Member 5 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
29 |
|
Kinesin Family Member 1A |
Protein Coding |
350 |
Causative germline mutation
58
|
|
30 |
|
Kirre Like Nephrin Family Adhesion Molecule 3 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
31 |
|
Methyl-CpG Binding Domain Protein 5 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
32 |
|
Mediator Complex Subunit 12L |
Protein Coding |
350 |
Causative germline mutation
58
|
|
33 |
|
Neurobeachin |
Protein Coding |
350 |
Causative germline mutation
58
|
|
34 |
|
Protein Phosphatase 3 Catalytic Subunit Alpha |
Protein Coding |
350 |
Causative germline mutation
58
|
|
35 |
|
Prickle Planar Cell Polarity Protein 2 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
36 |
|
RAB11A, Member RAS Oncogene Family |
Protein Coding |
350 |
Causative germline mutation
58
|
|
37 |
|
Sodium Voltage-Gated Channel Alpha Subunit 8 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
38 |
|
SET Nuclear Proto-Oncogene |
Protein Coding |
350 |
Causative germline mutation
58
|
|
39 |
|
SET Domain Containing 1B, Histone Lysine Methyltransferase |
Protein Coding |
350 |
Causative germline mutation
58
|
|
40 |
|
Solute Carrier Family 6 Member 1 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
41 |
|
Synaptic Ras GTPase Activating Protein 1 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
42 |
|
TAO Kinase 1 |
Protein Coding |
350 |
Causative germline mutation (loss of function)
58
|
|
43 |
|
Transcription Factor 4 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
44 |
|
Zinc Finger MYND-Type Containing 11 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
45 |
|
Lysine Demethylase 5B |
Protein Coding |
25 |
|
|
46 |
|
Myelin Transcription Factor 1 Like |
Protein Coding |
25 |
|
|
47 |
|
Jumonji And AT-Rich Interaction Domain Containing 2 |
Protein Coding |
25 |
Likely pathogenic
5
|
|