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
REEP1
(HGNC:25786)
 Strong Moderate Moderate Strong Moderate Strong
NHEJ1
(HGNC:25737)
 Strong Moderate Moderate Strong Moderate Strong
TRAPPC11
(HGNC:25751)
 Moderate Moderate Moderate Strong Strong Strong
PGAP1
(HGNC:25712)
 Strong Strong Moderate Moderate Strong Strong
CARS2
(HGNC:25695)
 Strong Strong Moderate Weak Strong Strong
CYB5A
(HGNC:2570)
 Strong Strong Moderate Moderate Strong Strong
GORAB
(HGNC:25676)
 Strong Strong Moderate Strong Strong Strong
MAMLD1
(HGNC:2568)
 Moderate Moderate Weak Weak Moderate Moderate
RNASEH2B
(HGNC:25671)
 Strong Strong Moderate Strong Strong Strong
TTC21B
(HGNC:25660)
 Moderate Moderate Weak Strong Moderate Moderate
ATAD3A
(HGNC:25567)
 Moderate Strong Moderate Moderate Moderate Strong
CUX1
(HGNC:2557)
 Weak Weak Weak Weak Weak Moderate
NAXD
(HGNC:25576)
 Strong Strong Moderate Moderate Strong Strong
SETD5
(HGNC:25566)
 Strong Strong Moderate Weak Strong Strong
CUL4B
(HGNC:2555)
 Strong Moderate Moderate Strong Strong Strong
CUL3
(HGNC:2553)
 Strong Moderate Moderate Strong Strong Strong
DARS2
(HGNC:25538)
 Strong Moderate Moderate Strong Strong Strong
ANO10
(HGNC:25519)
 Moderate Strong Moderate Strong Strong Moderate
MED9
(HGNC:25487)
 Weak Weak Weak Weak Weak Weak
VAC14
(HGNC:25507)
 Moderate Moderate Moderate Moderate Strong Strong
Showing 1341–1360 of 2035