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 |
|
PAK1
(HGNC:8590)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
ATP6V1E1
(HGNC:857)
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Weak
|
|
|
PABPN1
(HGNC:8565)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
ATP6V1B2
(HGNC:854)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
OXCT1
(HGNC:8527)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ATP4A
(HGNC:819)
|
Weak
|
Strong
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
ATP2B3
(HGNC:816)
|
Weak
|
Weak
|
Weak
|
Moderate
|
Weak
|
Moderate
|
|
|
SIGMAR1
(HGNC:8157)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
OPHN1
(HGNC:8148)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
OPA3
(HGNC:8142)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
ATP2A1
(HGNC:811)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
OAT
(HGNC:8091)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
OCLN
(HGNC:8104)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
NYX
(HGNC:8082)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
FRMD7
(HGNC:8079)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
NUP98
(HGNC:8068)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
NUP214
(HGNC:8064)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
NUMA1
(HGNC:8059)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
NT5E
(HGNC:8021)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CNTNAP1
(HGNC:8011)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|