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 |
|
TTBK2
(HGNC:19141)
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
NPHP4
(HGNC:19104)
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
PSAT1
(HGNC:19129)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Strong
|
|
|
FIP1L1
(HGNC:19124)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
NALCN
(HGNC:19082)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Weak
|
Moderate
|
|
|
RIGI
(HGNC:19102)
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
COQ8B
(HGNC:19041)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
RHOBTB2
(HGNC:18756)
|
Moderate
|
Weak
|
Strong
|
Weak
|
Strong
|
Moderate
|
|
|
RIN2
(HGNC:18750)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
MAST1
(HGNC:19034)
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
Moderate
|
|
|
RTTN
(HGNC:18654)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
GBA2
(HGNC:18986)
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
SLURP1
(HGNC:18746)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Moderate
|
Moderate
|
|
|
NAA10
(HGNC:18704)
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CREB3L1
(HGNC:18856)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
Strong
|
|
|
MMAA
(HGNC:18871)
|
Weak
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
POGZ
(HGNC:18801)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
RNPC3
(HGNC:18666)
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
HPS6
(HGNC:18817)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
CDK5RAP2
(HGNC:18672)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|