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 |
|
AUTS2
(HGNC:14262)
|
Weak
|
Weak
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
ANO3
(HGNC:14004)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
BRPF1
(HGNC:14255)
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
JPH3
(HGNC:14203)
|
Strong
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
|
|
NPRL3
(HGNC:14124)
|
Weak
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
HDAC4
(HGNC:14063)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
PRDM13
(HGNC:13998)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CACNB2
(HGNC:1402)
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
|
|
SERPINB7
(HGNC:13902)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
PRDM12
(HGNC:13997)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
TRPV6
(HGNC:14006)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
|
|
SLC5A7
(HGNC:14025)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Weak
|
Strong
|
|
|
MPIG6B
(HGNC:13937)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
PRDM16
(HGNC:14000)
|
Weak
|
Weak
|
Strong
|
Weak
|
Moderate
|
Moderate
|
|
|
CABP4
(HGNC:1386)
|
Moderate
|
Weak
|
Weak
|
Strong
|
Weak
|
Moderate
|
|
|
SLC12A5
(HGNC:13818)
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
|
|
ITCH
(HGNC:13890)
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Moderate
|
Strong
|
|
|
GFM1
(HGNC:13780)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
ASPSCR1
(HGNC:13825)
|
Strong
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Strong
|
|
|
CA8
(HGNC:1382)
|
Weak
|
Weak
|
Strong
|
Strong
|
Moderate
|
Moderate
|
|