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 |
|
TRPV6
(HGNC:14006)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
SLC5A7
(HGNC:14025)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
MPIG6B
(HGNC:13937)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PRDM16
(HGNC:14000)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Moderate
|
|
|
CABP4
(HGNC:1386)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
SLC12A5
(HGNC:13818)
|
Strong
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Strong
|
|
|
ITCH
(HGNC:13890)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
GFM1
(HGNC:13780)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ASPSCR1
(HGNC:13825)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
CA8
(HGNC:1382)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
NEUROG3
(HGNC:13806)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CYFIP1
(HGNC:13759)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Weak
|
Moderate
|
|
|
ALOXE3
(HGNC:13743)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
SOST
(HGNC:13771)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
KLF13
(HGNC:13672)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
CA2
(HGNC:1373)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CTCF
(HGNC:13723)
|
Moderate
|
Strong
|
Weak
|
Weak
|
Strong
|
Moderate
|
|
|
FBXL4
(HGNC:13601)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ZBTB20
(HGNC:13503)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
BRD4
(HGNC:13575)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|