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 |
|
COPA
(HGNC:2230)
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
Moderate
|
|
|
KIAA1549
(HGNC:22219)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
GMPPB
(HGNC:22932)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
COX10
(HGNC:2260)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
COX15
(HGNC:2263)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
CORO1A
(HGNC:2252)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
MED13
(HGNC:22474)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
COQ7
(HGNC:2244)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
COL9A3
(HGNC:2219)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
VMA21
(HGNC:22082)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
TMEM106B
(HGNC:22407)
|
Moderate
|
Weak
|
Weak
|
Strong
|
Weak
|
Weak
|
|
|
COL10A1
(HGNC:2185)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
COCH
(HGNC:2180)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
COL9A2
(HGNC:2218)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
COL4A6
(HGNC:2208)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
COL9A1
(HGNC:2217)
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
|
|
KCTD7
(HGNC:21957)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ANTXR2
(HGNC:21732)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CNTN6
(HGNC:2176)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
LHX4
(HGNC:21734)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Strong
|
|