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 |
|
BUB1
(HGNC:1148)
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
|
|
PLK4
(HGNC:11397)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
STUB1
(HGNC:11427)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
STAT2
(HGNC:11363)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
STK4
(HGNC:11408)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
ST14
(HGNC:11344)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
AURKC
(HGNC:11391)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
SS18
(HGNC:11340)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
SPTBN2
(HGNC:11276)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
SSBP1
(HGNC:11317)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
SPTAN1
(HGNC:11273)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
SPR
(HGNC:11257)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
SRC
(HGNC:11283)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
SPTLC2
(HGNC:11278)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
SOX4
(HGNC:11200)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
SPOP
(HGNC:11254)
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
|
|
SNRPN
(HGNC:11164)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
SOX5
(HGNC:11201)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
SLC7A7
(HGNC:11065)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SON
(HGNC:11183)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|