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
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