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 |
|
CNGB1
(HGNC:2151)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
|
|
CNGA1
(HGNC:2148)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Strong
|
|
|
INPP5E
(HGNC:21474)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
RARS2
(HGNC:21406)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
ABHD5
(HGNC:21396)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
SBF2
(HGNC:2135)
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
DYM
(HGNC:21317)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
ADPRS
(HGNC:21304)
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
DSG4
(HGNC:21307)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
PNPLA1
(HGNC:21246)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
RMND1
(HGNC:21176)
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
KCTD11
(HGNC:21302)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Weak
|
Strong
|
|
|
GTF2H5
(HGNC:21157)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
NUS1
(HGNC:21042)
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Weak
|
Moderate
|
|
|
FARS2
(HGNC:21062)
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
ZBTB24
(HGNC:21143)
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
QKI
(HGNC:21100)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
|
|
SERAC1
(HGNC:21061)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
HACE1
(HGNC:21033)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CUL7
(HGNC:21024)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|