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
XDH
(HGNC:12805)
 Strong Strong Moderate Strong Strong Strong
YARS1
(HGNC:12840)
 Moderate Moderate Moderate Moderate Moderate Moderate
CCN6
(HGNC:12771)
 Strong Strong Moderate Strong Strong Strong
ZBTB16
(HGNC:12930)
 Weak Weak Weak Weak Weak Weak
WNT7A
(HGNC:12786)
 Moderate Strong Moderate Moderate Strong Moderate
WARS2
(HGNC:12730)
 Strong Strong Moderate Weak Strong Strong
C1S
(HGNC:1247)
 Moderate Moderate Moderate Strong Moderate Moderate
TTPA
(HGNC:12404)
 Strong Strong Moderate Strong Strong Strong
TSHB
(HGNC:12372)
 Strong Strong Moderate Strong Strong Strong
ZMPSTE24
(HGNC:12877)
 Strong Strong Moderate Strong Strong Strong
ZNF142
(HGNC:12927)
 Strong Strong Moderate Moderate Strong Strong
ZFY
(HGNC:12870)
 Weak Moderate Weak Weak Weak Weak
ZIC3
(HGNC:12874)
 Moderate Moderate Moderate Moderate Strong Strong
ZIC2
(HGNC:12873)
 Moderate Moderate Weak Strong Strong Strong
ZIC1
(HGNC:12872)
 Moderate Moderate Moderate Weak Strong Moderate
YY1
(HGNC:12856)
 Strong Strong Moderate Strong Strong Strong
CD70
(HGNC:11937)
 Strong Strong Moderate Weak Strong Strong
MYOT
(HGNC:12399)
 Strong Moderate Moderate Moderate Moderate Moderate
YWHAE
(HGNC:12851)
 Moderate Moderate Moderate Weak Moderate Moderate
XPO1
(HGNC:12825)
 Weak Weak Strong Strong Strong Moderate
Showing 1841–1860 of 2035