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
PMEPA1
(HGNC:14107)
 Weak Weak Weak Weak Weak Weak
BACH2
(HGNC:14078)
 Moderate Moderate Weak Weak Strong Strong
FMN2
(HGNC:14074)
 Weak Weak Weak Moderate Weak Weak
CACNB4
(HGNC:1404)
 Moderate Moderate Weak Weak Weak Moderate
MGA
(HGNC:14010)
 Weak Weak Weak Weak Weak Weak
CACNA2D2
(HGNC:1400)
 Moderate Moderate Moderate Weak Moderate Moderate
CACNA1I
(HGNC:1396)
 Moderate Moderate Weak Weak Moderate Moderate
CACNA1G
(HGNC:1394)
 Strong Moderate Moderate Strong Strong Strong
CACNA1E
(HGNC:1392)
 Weak Weak Weak Strong Moderate Moderate
CACNA1B
(HGNC:1389)
 Weak Moderate Moderate Strong Weak Moderate
LOXL3
(HGNC:13869)
 Moderate Strong Moderate Weak Strong Strong
ADGRG6
(HGNC:13841)
 Weak Weak Weak Weak Moderate Moderate
CA5A
(HGNC:1377)
 Strong Moderate Moderate Strong Strong Strong
CYFIP2
(HGNC:13760)
 Strong Strong Weak Weak Moderate Moderate
CA12
(HGNC:1371)
 Strong Strong Moderate Strong Strong Strong
DEGS1
(HGNC:13709)
 Strong Strong Moderate Moderate Strong Strong
DCHS1
(HGNC:13681)
 Moderate Moderate Moderate Moderate Moderate Moderate
MACF1
(HGNC:13664)
 Moderate Moderate Moderate Moderate Moderate Moderate
PLVAP
(HGNC:13635)
 Strong Strong Moderate Weak Strong Strong
FBXO7
(HGNC:13586)
 Strong Strong Moderate Strong Strong Strong
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