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 |
|
SLC5A1
(HGNC:11036)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SKIC2
(HGNC:10898)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SLC4A4
(HGNC:11030)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
SLC34A2
(HGNC:11020)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SLC30A2
(HGNC:11013)
|
Moderate
|
Strong
|
Weak
|
Moderate
|
Moderate
|
Strong
|
|
|
SLC27A4
(HGNC:10998)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SLC26A2
(HGNC:10994)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
SLC1A4
(HGNC:10942)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
SLC17A5
(HGNC:10933)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SIX5
(HGNC:10891)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Weak
|
|
|
SLC11A2
(HGNC:10908)
|
Moderate
|
Strong
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
SIX3
(HGNC:10889)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
DST
(HGNC:1090)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SLC10A1
(HGNC:10905)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
PMEL
(HGNC:10880)
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
ST3GAL5
(HGNC:10872)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
STIL
(HGNC:10879)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
SH3BP2
(HGNC:10825)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SGPL1
(HGNC:10817)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SGSH
(HGNC:10818)
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|