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 |
|
SYN1
(HGNC:11494)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
TBCE
(HGNC:11582)
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
TBCD
(HGNC:11581)
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
TAF1
(HGNC:11535)
|
Weak
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
|
|
BUB1B
(HGNC:1149)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Strong
|
|
|
SYT1
(HGNC:11509)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
SUCLG1
(HGNC:11449)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
STAG3
(HGNC:11356)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
STX16
(HGNC:11431)
|
Strong
|
Moderate
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
STIM1
(HGNC:11386)
|
Moderate
|
Weak
|
Weak
|
Strong
|
Weak
|
Strong
|
|
|
BUB1
(HGNC:1148)
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Weak
|
Moderate
|
|
|
PLK4
(HGNC:11397)
|
Moderate
|
Weak
|
Weak
|
Strong
|
Weak
|
Moderate
|
|
|
STUB1
(HGNC:11427)
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Weak
|
Strong
|
|
|
STAT2
(HGNC:11363)
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
STK4
(HGNC:11408)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ST14
(HGNC:11344)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
AURKC
(HGNC:11391)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SS18
(HGNC:11340)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
SPTBN2
(HGNC:11276)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Weak
|
Strong
|
|
|
SSBP1
(HGNC:11317)
|
Weak
|
Weak
|
Weak
|
Moderate
|
Weak
|
Moderate
|
|