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
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