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
|
|