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 |
|
XDH
(HGNC:12805)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
YARS1
(HGNC:12840)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
CCN6
(HGNC:12771)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ZBTB16
(HGNC:12930)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
WNT7A
(HGNC:12786)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
WARS2
(HGNC:12730)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
C1S
(HGNC:1247)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
TTPA
(HGNC:12404)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
TSHB
(HGNC:12372)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ZMPSTE24
(HGNC:12877)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ZNF142
(HGNC:12927)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
ZFY
(HGNC:12870)
|
Weak
|
Moderate
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
ZIC3
(HGNC:12874)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
ZIC2
(HGNC:12873)
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
ZIC1
(HGNC:12872)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
YY1
(HGNC:12856)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CD70
(HGNC:11937)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
MYOT
(HGNC:12399)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
YWHAE
(HGNC:12851)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
XPO1
(HGNC:12825)
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
Moderate
|
|