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 |
|
DPP6
(HGNC:3010)
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
DPAGT1
(HGNC:2995)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
NUTM1
(HGNC:29919)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
DNM1L
(HGNC:2973)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
DNM1
(HGNC:2972)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
NFASC
(HGNC:29866)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
DOCK1
(HGNC:2987)
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
HECW2
(HGNC:29853)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
TOR1AIP1
(HGNC:29456)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
MSTO1
(HGNC:29678)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
MEGF10
(HGNC:29634)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
IARS2
(HGNC:29685)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
LIPT1
(HGNC:29569)
|
Strong
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
MTFMT
(HGNC:29666)
|
Strong
|
Moderate
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
NEXMIF
(HGNC:29433)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
PLPPR2
(HGNC:29566)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
DNASE1L3
(HGNC:2959)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CCBE1
(HGNC:29426)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
C12orf57
(HGNC:29521)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
KIDINS220
(HGNC:29508)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|