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 |
|
PRUNE1
(HGNC:13420)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
PCLO
(HGNC:13406)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
LPIN1
(HGNC:13345)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Strong
|
|
|
AICDA
(HGNC:13203)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
|
|
ADAMTS10
(HGNC:13201)
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
CNBP
(HGNC:13164)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ZP1
(HGNC:13187)
|
Moderate
|
Strong
|
Weak
|
Strong
|
Weak
|
Strong
|
|
|
SCAPER
(HGNC:13081)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
ZBTB18
(HGNC:13030)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
ZMYM2
(HGNC:12989)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
XDH
(HGNC:12805)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
YARS1
(HGNC:12840)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|
|
CCN6
(HGNC:12771)
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
ZBTB16
(HGNC:12930)
|
Strong
|
Moderate
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
WNT7A
(HGNC:12786)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
|
|
WARS2
(HGNC:12730)
|
Strong
|
Weak
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
C1S
(HGNC:1247)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
TTPA
(HGNC:12404)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
TSHB
(HGNC:12372)
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
ZMPSTE24
(HGNC:12877)
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|