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 |
|
EPG5
(HGNC:29331)
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
DMRT1
(HGNC:2934)
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
WDR35
(HGNC:29250)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
DMP1
(HGNC:2932)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
SH3PXD2B
(HGNC:29242)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
USP53
(HGNC:29255)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
TBC1D24
(HGNC:29203)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
ADSL
(HGNC:291)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
FAN1
(HGNC:29170)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Strong
|
|
|
DLX5
(HGNC:2918)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
|
|
SETD1B
(HGNC:29187)
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Weak
|
Moderate
|
|
|
ANKRD26
(HGNC:29186)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Moderate
|
|
|
DLX3
(HGNC:2916)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
PLEKHG5
(HGNC:29105)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
DLL4
(HGNC:2910)
|
Weak
|
Weak
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
|
|
DLL3
(HGNC:2909)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
DDHD2
(HGNC:29106)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
TELO2
(HGNC:29099)
|
Weak
|
Weak
|
Strong
|
Strong
|
Moderate
|
Moderate
|
|
|
OBSL1
(HGNC:29092)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
SMCHD1
(HGNC:29090)
|
Weak
|
Weak
|
Weak
|
Strong
|
Moderate
|
Moderate
|
|