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 |
|
ALG3
(HGNC:23056)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
TRAPPC2
(HGNC:23068)
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
FAM20A
(HGNC:23015)
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
ZRSR2
(HGNC:23019)
|
Moderate
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
|
|
MED13L
(HGNC:22962)
|
Weak
|
Weak
|
Strong
|
Weak
|
Strong
|
Moderate
|
|
|
COX8A
(HGNC:2294)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|
|
COL27A1
(HGNC:22986)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
PDLIM7
(HGNC:22958)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
NLRP12
(HGNC:22938)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
NLRP2
(HGNC:22948)
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
COPA
(HGNC:2230)
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
Moderate
|
|
|
KIAA1549
(HGNC:22219)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
GMPPB
(HGNC:22932)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
COX10
(HGNC:2260)
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
COX15
(HGNC:2263)
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CORO1A
(HGNC:2252)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
MED13
(HGNC:22474)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Moderate
|
Strong
|
|
|
COQ7
(HGNC:2244)
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
COL9A3
(HGNC:2219)
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Weak
|
Moderate
|
|
|
VMA21
(HGNC:22082)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|