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 |
|
EED
(HGNC:3188)
|
Weak
|
Weak
|
Strong
|
Weak
|
Moderate
|
Strong
|
|
|
AFG3L2
(HGNC:315)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
SAMD12
(HGNC:31750)
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Strong
|
|
|
ECM1
(HGNC:3153)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
ECHS1
(HGNC:3151)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
TYMP
(HGNC:3148)
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
ECEL1
(HGNC:3147)
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Moderate
|
|
|
E2F4
(HGNC:3118)
|
Weak
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
|
|
GREB1L
(HGNC:31042)
|
Weak
|
Weak
|
Weak
|
Strong
|
Moderate
|
Strong
|
|
|
SECISBP2
(HGNC:30972)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
ALG13
(HGNC:30881)
|
Strong
|
Weak
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
LINS1
(HGNC:30922)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
HUWE1
(HGNC:30892)
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
Moderate
|
|
|
POC1B
(HGNC:30836)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
YY1AP1
(HGNC:30935)
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
EFTUD2
(HGNC:30858)
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
PNPLA2
(HGNC:30802)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
TUBB2B
(HGNC:30829)
|
Weak
|
Weak
|
Strong
|
Weak
|
Weak
|
Moderate
|
|
|
TRAPPC9
(HGNC:30832)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
TARS2
(HGNC:30740)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|