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 |
|
ATAD3A
(HGNC:25567)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
CUX1
(HGNC:2557)
|
Weak
|
Weak
|
Weak
|
Strong
|
Weak
|
Moderate
|
|
|
NAXD
(HGNC:25576)
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
SETD5
(HGNC:25566)
|
Weak
|
Weak
|
Strong
|
Weak
|
Weak
|
Strong
|
|
|
CUL4B
(HGNC:2555)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CUL3
(HGNC:2553)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Moderate
|
|
|
DARS2
(HGNC:25538)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ANO10
(HGNC:25519)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
MED9
(HGNC:25487)
|
Moderate
|
Weak
|
—
|
—
|
—
|
—
|
|
|
VAC14
(HGNC:25507)
|
Weak
|
Weak
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
C19orf12
(HGNC:25443)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Weak
|
Moderate
|
|
|
TRMU
(HGNC:25481)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
FREM2
(HGNC:25396)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CTSK
(HGNC:2536)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
COQ9
(HGNC:25302)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
SLC30A10
(HGNC:25355)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
AHDC1
(HGNC:25230)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CTSD
(HGNC:2529)
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
SLC25A46
(HGNC:25198)
|
Weak
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
CTNND2
(HGNC:2516)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
|