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 |
|
SUZ12
(HGNC:17101)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
CDON
(HGNC:17104)
|
Weak
|
Weak
|
Weak
|
Moderate
|
Weak
|
Strong
|
|
|
TAB2
(HGNC:17075)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CD3D
(HGNC:1673)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PUF60
(HGNC:17042)
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
NCSTN
(HGNC:17091)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
RAB39B
(HGNC:16499)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
TRIOBP
(HGNC:17009)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
PRICKLE1
(HGNC:17019)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
KIF1B
(HGNC:16636)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
BSND
(HGNC:16512)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
MCEE
(HGNC:16732)
|
Strong
|
Weak
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
SRCAP
(HGNC:16974)
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
HAX1
(HGNC:16915)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
STAMBP
(HGNC:16950)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
SPEG
(HGNC:16901)
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
CD59
(HGNC:1689)
|
Weak
|
Weak
|
Strong
|
Moderate
|
Moderate
|
Strong
|
|
|
HCN4
(HGNC:16882)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
FIG4
(HGNC:16873)
|
Moderate
|
Weak
|
Weak
|
Strong
|
Weak
|
Moderate
|
|
|
LITAF
(HGNC:16841)
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
|