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 |
|
ZNF142
(HGNC:12927)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ZFY
(HGNC:12870)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
ZIC3
(HGNC:12874)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
ZIC2
(HGNC:12873)
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
ZIC1
(HGNC:12872)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
YY1
(HGNC:12856)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
CD70
(HGNC:11937)
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
MYOT
(HGNC:12399)
|
Weak
|
Weak
|
Weak
|
Strong
|
Weak
|
Moderate
|
|
|
YWHAE
(HGNC:12851)
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|
|
XPO1
(HGNC:12825)
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
Moderate
|
|
|
WNT10B
(HGNC:12775)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
WNT5A
(HGNC:12784)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|
|
VPS33B
(HGNC:12712)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
VAPB
(HGNC:12649)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
VRK1
(HGNC:12718)
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
NSD3
(HGNC:12767)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
Strong
|
|
|
VLDLR
(HGNC:12698)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
USP9X
(HGNC:12632)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
USP6
(HGNC:12629)
|
Moderate
|
Weak
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
UBE2A
(HGNC:12472)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|