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 |
|
SMARCAD1
(HGNC:18398)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
HPSE2
(HGNC:18374)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
IMPG2
(HGNC:18362)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
IL17RC
(HGNC:18358)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
|
|
WDR19
(HGNC:18340)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ATP6AP2
(HGNC:18305)
|
Strong
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
ALG1
(HGNC:18294)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SEC61A1
(HGNC:18276)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Moderate
|
|
|
HHAT
(HGNC:18270)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
ELP2
(HGNC:18248)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
RCBTB1
(HGNC:18243)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
SOX7
(HGNC:18196)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
TMCO1
(HGNC:18188)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
VPS33A
(HGNC:18179)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
TXNRD2
(HGNC:18155)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
A4GALT
(HGNC:18149)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
ZNRF3
(HGNC:18126)
|
Moderate
|
Weak
|
Weak
|
Weak
|
Moderate
|
Weak
|
|
|
P2RY12
(HGNC:18124)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Moderate
|
Strong
|
|
|
SOX17
(HGNC:18122)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
MFRP
(HGNC:18121)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|