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 |
|
CREB3L3
(HGNC:18855)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
PPP1R13L
(HGNC:18838)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
NDUFAF1
(HGNC:18828)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CATSPER2
(HGNC:18810)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CAMTA1
(HGNC:18806)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
PDCD1LG2
(HGNC:18731)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Strong
|
Moderate
|
|
|
GRIP1
(HGNC:18708)
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
|
|
RTN4IP1
(HGNC:18647)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
COG7
(HGNC:18622)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
COG4
(HGNC:18620)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
|
|
CEP250
(HGNC:1859)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CENPF
(HGNC:1857)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CCNO
(HGNC:18576)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
IER3IP1
(HGNC:18550)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
KMT2E
(HGNC:18541)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CPT1C
(HGNC:18540)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
STX1B
(HGNC:18539)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Strong
|
Moderate
|
|
|
CELSR1
(HGNC:1850)
|
Moderate
|
Weak
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
NAXE
(HGNC:18453)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
AGMAT
(HGNC:18407)
|
Strong
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|