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 |
|
CYB5R3
(HGNC:2873)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
LEMD3
(HGNC:28887)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
EMC1
(HGNC:28957)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
NUP93
(HGNC:28958)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
GPD1L
(HGNC:28956)
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
Moderate
|
|
|
DNAJC12
(HGNC:28908)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
IQCB1
(HGNC:28949)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
DHH
(HGNC:2865)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PPA2
(HGNC:28883)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
MAGT1
(HGNC:28880)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
P4HTM
(HGNC:28858)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
SYCE1
(HGNC:28852)
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
B3GALNT2
(HGNC:28596)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
DHCR24
(HGNC:2859)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
DIAPH1
(HGNC:2876)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ILDR1
(HGNC:28741)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
DIS3L2
(HGNC:28648)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
NDUFAF6
(HGNC:28625)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
RICTOR
(HGNC:28611)
|
Moderate
|
Weak
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
DGKE
(HGNC:2852)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|