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 |
|
SNAI2
(HGNC:11094)
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
SLIT1
(HGNC:11085)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
BRD3
(HGNC:1104)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
SLC5A6
(HGNC:11041)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
SLC4A3
(HGNC:11029)
|
Moderate
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|
|
SLC31A1
(HGNC:11016)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
SLC29A1
(HGNC:11003)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Moderate
|
|
|
SLC25A15
(HGNC:10985)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SLC1A1
(HGNC:10939)
|
Moderate
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
SLC14A1
(HGNC:10918)
|
Moderate
|
Strong
|
Weak
|
Strong
|
Moderate
|
Strong
|
|
|
SLC10A2
(HGNC:10906)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
|
|
ACHE Gene
(HGNC:108)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
SIX6
(HGNC:10892)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
|
|
SIX2
(HGNC:10888)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
ST3GAL3
(HGNC:10866)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
SIAH1
(HGNC:10857)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
SEM1
(HGNC:10845)
|
Moderate
|
Strong
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
SFTPA2
(HGNC:10799)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
SFRP4
(HGNC:10778)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
SF3B2
(HGNC:10769)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|