Proband Tables
Summaries focusing on proband-level evidence; browse by gene.
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| Gene |
Allelic Consistency |
Phenotypic Consistency |
Penetrance |
Ethnic Diversity |
Inheritance Consistency |
Mechanism of disease |
Actions |
|
NEUROG3
(HGNC:13806)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
CYFIP1
(HGNC:13759)
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Weak
|
|
|
ALOXE3
(HGNC:13743)
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
SOST
(HGNC:13771)
|
Moderate
|
Weak
|
Weak
|
Strong
|
Weak
|
Moderate
|
|
|
KLF13
(HGNC:13672)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|
|
CA2
(HGNC:1373)
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CTCF
(HGNC:13723)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
FBXL4
(HGNC:13601)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
ZBTB20
(HGNC:13503)
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
BRD4
(HGNC:13575)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Weak
|
Moderate
|
|
|
FBXO11
(HGNC:13590)
|
Weak
|
Weak
|
Strong
|
Weak
|
Moderate
|
Moderate
|
|
|
IFT122
(HGNC:13556)
|
Weak
|
Weak
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
ATP8A2
(HGNC:13533)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
C7
(HGNC:1346)
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
MCOLN1
(HGNC:13356)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
SLC2A10
(HGNC:13444)
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
ARL6
(HGNC:13210)
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
Moderate
|
|
|
ROBO3
(HGNC:13433)
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
ACTB
(HGNC:132)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Moderate
|
|
|
NSDHL
(HGNC:13398)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|