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 |
|
OPA3
(HGNC:8142)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Weak
|
Moderate
|
|
|
ATP2A1
(HGNC:811)
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Strong
|
|
|
OAT
(HGNC:8091)
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
OCLN
(HGNC:8104)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
NYX
(HGNC:8082)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
FRMD7
(HGNC:8079)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
NUP98
(HGNC:8068)
|
Moderate
|
Strong
|
Weak
|
Moderate
|
Strong
|
Strong
|
|
|
NUP214
(HGNC:8064)
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Weak
|
|
|
NUMA1
(HGNC:8059)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
NT5E
(HGNC:8021)
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
CNTNAP1
(HGNC:8011)
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
NRXN3
(HGNC:8010)
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Moderate
|
|
|
NRXN2
(HGNC:8009)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|
|
NRL
(HGNC:8002)
|
Weak
|
Weak
|
Weak
|
Strong
|
Weak
|
Strong
|
|
|
NR4A3
(HGNC:7982)
|
Moderate
|
Weak
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
NR2F2
(HGNC:7976)
|
Weak
|
Weak
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
NR2F1
(HGNC:7975)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
NR1I3
(HGNC:7969)
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Weak
|
Weak
|
|
|
NR1H4
(HGNC:7967)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
|
|
ATIC
(HGNC:794)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|