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
ETFB
(HGNC:3482)
 Moderate Moderate Weak Weak Strong Strong
AHCY
(HGNC:343)
 Strong Strong Moderate Moderate Strong Strong
EPOR
(HGNC:3416)
 Strong Strong Moderate Strong Strong Strong
ERCC8
(HGNC:3439)
 Strong Moderate Moderate Strong Strong Strong
EPM2A
(HGNC:3413)
 Strong Strong Moderate Strong Strong Strong
EPHB4
(HGNC:3395)
 Moderate Moderate Moderate Moderate Strong Strong
ACOD1
(HGNC:33904)
 Moderate Strong Moderate Moderate Strong Strong
EPHA2
(HGNC:3386)
 Moderate Strong Moderate Strong Moderate Moderate
EPB42
(HGNC:3381)
 Strong Moderate Moderate Strong Moderate Strong
EMD
(HGNC:3331)
 Strong Strong Moderate Strong Strong Strong
KHDC3L
(HGNC:33699)
 Strong Strong Moderate Strong Strong Strong
AGRN
(HGNC:329)
 Strong Strong Moderate Strong Strong Strong
SMPD4
(HGNC:32949)
 Strong Strong Moderate Moderate Strong Strong
EIF2B3
(HGNC:3259)
 Moderate Strong Moderate Strong Strong Strong
FLG2
(HGNC:33276)
 Moderate Moderate Moderate Moderate Moderate Moderate
EIF2B4
(HGNC:3260)
 Moderate Strong Moderate Moderate Moderate Moderate
DUOXA2
(HGNC:32698)
 Moderate Moderate Weak Strong Strong Strong
EIF2B5
(HGNC:3261)
 Moderate Strong Moderate Strong Strong Strong
EIF2S3
(HGNC:3267)
 Strong Strong Moderate Weak Strong Strong
EIF2B2
(HGNC:3258)
 Strong Strong Moderate Strong Strong Strong
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