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 |
|
SLC6A1
(HGNC:11042)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
SLC16A1
(HGNC:10922)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Weak
|
Strong
|
|
|
SLC1A3
(HGNC:10941)
|
Moderate
|
Weak
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
SMPX
(HGNC:11122)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SLC18A2
(HGNC:10935)
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
SLCO2A1
(HGNC:10955)
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
SLC12A6
(HGNC:10914)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
SLC12A2
(HGNC:10911)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Weak
|
Moderate
|
|
|
SLC25A12
(HGNC:10982)
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
SLC5A2
(HGNC:11037)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
SLC5A1
(HGNC:11036)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
SKIC2
(HGNC:10898)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
SLC4A4
(HGNC:11030)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Strong
|
|
|
SLC34A2
(HGNC:11020)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SLC30A2
(HGNC:11013)
|
Weak
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
SLC27A4
(HGNC:10998)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
SLC26A2
(HGNC:10994)
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
SLC1A4
(HGNC:10942)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Weak
|
Moderate
|
|
|
SLC17A5
(HGNC:10933)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
SIX5
(HGNC:10891)
|
Weak
|
Weak
|
Strong
|
Strong
|
Weak
|
Moderate
|
|