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 |
|
P3H1
(HGNC:19316)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ATP6V0A2
(HGNC:18481)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CHD4
(HGNC:1919)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
CHD3
(HGNC:1918)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
SASH1
(HGNC:19182)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
FGD4
(HGNC:19125)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CHD1
(HGNC:1915)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
FRAS1
(HGNC:19185)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
ASH1L
(HGNC:19088)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
VPS13A
(HGNC:1908)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
TTBK2
(HGNC:19141)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
NPHP4
(HGNC:19104)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PSAT1
(HGNC:19129)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
FIP1L1
(HGNC:19124)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
NALCN
(HGNC:19082)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
RIGI
(HGNC:19102)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Strong
|
|
|
COQ8B
(HGNC:19041)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
RHOBTB2
(HGNC:18756)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Strong
|
Moderate
|
|
|
RIN2
(HGNC:18750)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
MAST1
(HGNC:19034)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|