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 |
|
DNAJB6
(HGNC:14888)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
COG5
(HGNC:14857)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
CAPN5
(HGNC:1482)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CAPN1
(HGNC:1476)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
DEAF1
(HGNC:14677)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
ADAMTSL2
(HGNC:14631)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
PAPPA2
(HGNC:14615)
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
ACTG2
(HGNC:145)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Moderate
|
Strong
|
|
|
CAMK2B
(HGNC:1461)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
WNK4
(HGNC:14544)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
VPS16
(HGNC:14584)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
CDHR1
(HGNC:14550)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
VPS45
(HGNC:14579)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
BAALC
(HGNC:14333)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
CALM1
(HGNC:1442)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CALM3
(HGNC:1449)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
CALM2
(HGNC:1445)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
LPIN2
(HGNC:14450)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CRIPT
(HGNC:14312)
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
ELOVL4
(HGNC:14415)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|