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 |
|
DNAH2
(HGNC:2948)
|
Weak
|
Weak
|
Weak
|
Moderate
|
Weak
|
Moderate
|
|
|
DNAH17
(HGNC:2946)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ZNF717
(HGNC:29448)
|
Weak
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
|
|
DNAH10
(HGNC:2941)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
DMXL2
(HGNC:2938)
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Weak
|
|
|
CEP152
(HGNC:29298)
|
Strong
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
TAOK1
(HGNC:29259)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
FASTKD2
(HGNC:29160)
|
Strong
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
EHBP1
(HGNC:29144)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
TMEM63A
(HGNC:29118)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
KDM1A
(HGNC:29079)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
KATNIP
(HGNC:29068)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SETD1A
(HGNC:29010)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Strong
|
Moderate
|
|
|
DLG1
(HGNC:2900)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Weak
|
Weak
|
|
|
SPIDR
(HGNC:28971)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
CCDC22
(HGNC:28909)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
DHODH
(HGNC:2867)
|
Moderate
|
Strong
|
Weak
|
Moderate
|
Strong
|
Strong
|
|
|
MEI1
(HGNC:28613)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
BEND2
(HGNC:28509)
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
TMEM151A
(HGNC:28497)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|