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
PEX26
(HGNC:22965)
 Moderate Moderate Moderate Moderate Strong Strong
POGLUT1
(HGNC:22954)
 Moderate Moderate Moderate Weak Moderate Moderate
PREX2
(HGNC:22950)
 Weak Weak Weak Weak Weak Weak
GMPPA
(HGNC:22923)
 Moderate Strong Moderate Moderate Strong Strong
COX4I1
(HGNC:2265)
 Strong Moderate Moderate Moderate Strong Strong
NOBOX
(HGNC:22448)
 Moderate Moderate Moderate Strong Moderate Moderate
ADAMTS7
(HGNC:223)
 Weak Moderate Weak Weak Weak Weak
AP5Z1
(HGNC:22197)
 Moderate Moderate Weak Strong Moderate Moderate
FAM20C
(HGNC:22140)
 Strong Strong Moderate Strong Strong Strong
ADAMTS3
(HGNC:219)
 Moderate Strong Weak Weak Moderate Strong
ADAMTS2
(HGNC:218)
 Weak Moderate Weak Moderate Weak Moderate
COL12A1
(HGNC:2188)
 Strong Strong Moderate Strong Moderate Strong
AGK
(HGNC:21869)
 Strong Strong Moderate Moderate Strong Strong
CNTN5
(HGNC:2175)
 Weak Moderate Weak Moderate Weak Weak
CCM2
(HGNC:21708)
 Strong Strong Moderate Strong Strong Strong
CERKL
(HGNC:21699)
 Strong Strong Moderate Moderate Strong Strong
RNASET2
(HGNC:21686)
 Strong Strong Moderate Moderate Strong Strong
FSIP2
(HGNC:21675)
 Moderate Strong Moderate Weak Strong Moderate
TOPORS
(HGNC:21653)
 Moderate Moderate Moderate Moderate Moderate Moderate
KIAA0319
(HGNC:21580)
 Weak Weak Weak Moderate Weak Weak
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