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 |
|
RIMS1
(HGNC:17282)
|
Weak
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Weak
|
|
|
BCAP31
(HGNC:16695)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
CENPJ
(HGNC:17272)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
BICD2
(HGNC:17208)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
RRAS2
(HGNC:17271)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
SLC39A4
(HGNC:17129)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
LARS2
(HGNC:17095)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CFHR3
(HGNC:16980)
|
Strong
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Strong
|
|
|
CDAN1
(HGNC:1713)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
ADAMTS17
(HGNC:17109)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SUZ12
(HGNC:17101)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CDON
(HGNC:17104)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
|
|
TAB2
(HGNC:17075)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CD3D
(HGNC:1673)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
PUF60
(HGNC:17042)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
NCSTN
(HGNC:17091)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
RAB39B
(HGNC:16499)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
TRIOBP
(HGNC:17009)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PRICKLE1
(HGNC:17019)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Weak
|
Moderate
|
|
|
KIF1B
(HGNC:16636)
|
Moderate
|
Weak
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|