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 |
|
UBR4
(HGNC:30313)
|
Moderate
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
WLS
(HGNC:30238)
|
Moderate
|
Strong
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
|
|
CC2D1A
(HGNC:30237)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
TANC2
(HGNC:30212)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
STRADA
(HGNC:30172)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
DPYSL2
(HGNC:3014)
|
Weak
|
Moderate
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
DPM1
(HGNC:3005)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
DPH1
(HGNC:3003)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
TENM3
(HGNC:29944)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
COASY
(HGNC:29932)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
NDUFAF3
(HGNC:29918)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
|
|
CSDE1
(HGNC:29905)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Strong
|
Moderate
|
|
|
DOCK2
(HGNC:2988)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
IFT43
(HGNC:29669)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
MNS1
(HGNC:29636)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
DNASE1
(HGNC:2956)
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Weak
|
|
|
ARV1
(HGNC:29561)
|
Moderate
|
Strong
|
Weak
|
Weak
|
Strong
|
Moderate
|
|
|
NEXN
(HGNC:29557)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
DNAH8
(HGNC:2952)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
GLDN
(HGNC:29514)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|