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 |
|
IQSEC2
(HGNC:29059)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
—
|
|
|
IFT140
(HGNC:29077)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
Strong
|
|
|
DLL1
(HGNC:2908)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
|
|
DLK1
(HGNC:2907)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
|
|
SPECC1L
(HGNC:29022)
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
|
|
DSTYK
(HGNC:29043)
|
Weak
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
|
|
SZT2
(HGNC:29040)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
DLD
(HGNC:2898)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
DLAT
(HGNC:2896)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
WASHC5
(HGNC:28984)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Weak
|
Moderate
|
|
|
CYB5R3
(HGNC:2873)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
LEMD3
(HGNC:28887)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
EMC1
(HGNC:28957)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Strong
|
|
|
NUP93
(HGNC:28958)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
GPD1L
(HGNC:28956)
|
Weak
|
Moderate
|
Weak
|
Strong
|
Strong
|
Moderate
|
|
|
DNAJC12
(HGNC:28908)
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
IQCB1
(HGNC:28949)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
DHH
(HGNC:2865)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
PPA2
(HGNC:28883)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
MAGT1
(HGNC:28880)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|