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 |
|
DGCR8
(HGNC:2847)
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
Weak
|
|
|
STAC3
(HGNC:28423)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ODAD3
(HGNC:28303)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
HPDL
(HGNC:28242)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
NDUFAF2
(HGNC:28086)
|
Strong
|
Moderate
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
LYRM7
(HGNC:28072)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
DHX16
(HGNC:2739)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
TECRL
(HGNC:27365)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
ACSF3
(HGNC:27288)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
AMER1
(HGNC:26837)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CYP4F22
(HGNC:26820)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
WDR72
(HGNC:26790)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
LACC1
(HGNC:26789)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CFAP43
(HGNC:26684)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
KDF1
(HGNC:26624)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
CYP51A1
(HGNC:2649)
|
Moderate
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
|
|
PTCHD1
(HGNC:26392)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Moderate
|
Strong
|
|
|
POMK
(HGNC:26267)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
NSUN3
(HGNC:26208)
|
Strong
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
MTARC1
(HGNC:26189)
|
Strong
|
Moderate
|
Weak
|
Moderate
|
Weak
|
Moderate
|
|