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 |
|
ADCY3
(HGNC:234)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Strong
|
|
|
DOLK
(HGNC:23406)
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CREM
(HGNC:2352)
|
Moderate
|
Weak
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
MYPN
(HGNC:23246)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Weak
|
Weak
|
|
|
UBA5
(HGNC:23230)
|
Moderate
|
Weak
|
Weak
|
Strong
|
Weak
|
Strong
|
|
|
ACBD5
(HGNC:23338)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
FREM1
(HGNC:23399)
|
Weak
|
Weak
|
Strong
|
Moderate
|
Moderate
|
Strong
|
|
|
ETHE1
(HGNC:23287)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
PNPT1
(HGNC:23166)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
PIGO
(HGNC:23215)
|
Moderate
|
Weak
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
ALG8
(HGNC:23161)
|
Weak
|
Weak
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
CPOX
(HGNC:2321)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
|
|
PIGW
(HGNC:23213)
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
Moderate
|
|
|
FERMT3
(HGNC:23151)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
SLC13A5
(HGNC:23089)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
FAT3
(HGNC:23112)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Weak
|
Weak
|
|
|
ALG6
(HGNC:23157)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
FAT4
(HGNC:23109)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
LMBRD1
(HGNC:23038)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
GNPTG
(HGNC:23026)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|