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 |
|
PCNT
(HGNC:16068)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
RNF31
(HGNC:16031)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
TRIM63
(HGNC:16007)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
NAV3
(HGNC:15998)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
NAV2
(HGNC:15997)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|
|
CCNF
(HGNC:1591)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
|
|
PLCB1
(HGNC:15917)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
NDUFAF5
(HGNC:15899)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
FERMT1
(HGNC:15889)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
KIZ
(HGNC:15865)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
ANKRD1
(HGNC:15819)
|
Weak
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Weak
|
|
|
ZNF335
(HGNC:15807)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
GATA5
(HGNC:15802)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
OSBPL2
(HGNC:15761)
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
|
|
NAPB
(HGNC:15751)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
HID1
(HGNC:15736)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
LRPPRC
(HGNC:15714)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
HPS3
(HGNC:15597)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
SPRY4
(HGNC:15533)
|
Weak
|
Strong
|
Weak
|
Weak
|
Moderate
|
Weak
|
|
|
ALDH1A2
(HGNC:15472)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
|