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
|
|