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 |
|
ERLIN2
(HGNC:1356)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
ATP11C
(HGNC:13554)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
|
|
CLIC5
(HGNC:13517)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
SAMD9L
(HGNC:1349)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
SAMD9
(HGNC:1348)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
UBE3B
(HGNC:13478)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
NEK8
(HGNC:13387)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
KDM3B
(HGNC:1337)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
MS4A6A
(HGNC:13375)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Weak
|
|
|
LMBR1
(HGNC:13243)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ATP2C1
(HGNC:13211)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ZP3
(HGNC:13189)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
IKZF2
(HGNC:13177)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
PCGF2
(HGNC:12929)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
ZFX
(HGNC:12869)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
XPR1
(HGNC:12827)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
WNT11
(HGNC:12776)
|
Moderate
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
NSD2
(HGNC:12766)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
FOXN1
(HGNC:12765)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
VRK2
(HGNC:12719)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Weak
|
|