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
Showing 1201–1220 of 2035