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
CARMIL2
(HGNC:27089)
 Strong Moderate Moderate Strong Strong Strong
ESCO2
(HGNC:27230)
 Strong Strong Moderate Strong Strong Strong
DDB2
(HGNC:2718)
 Strong Strong Moderate Strong Strong Strong
DCN
(HGNC:2705)
 Strong Strong Moderate Strong Strong Moderate
DNAJC21
(HGNC:27030)
 Moderate Strong Weak Moderate Moderate Moderate
COX20
(HGNC:26970)
 Strong Strong Moderate Moderate Strong Strong
BLTP1
(HGNC:26953)
 Strong Strong Moderate Moderate Strong Strong
JAGN1
(HGNC:26926)
 Strong Strong Moderate Moderate Strong Strong
MTRFR
(HGNC:26784)
 Strong Moderate Moderate Strong Strong Strong
ERCC6L2
(HGNC:26922)
 Strong Strong Moderate Moderate Strong Strong
DAG1
(HGNC:2666)
 Moderate Moderate Moderate Strong Moderate Moderate
OTOGL
(HGNC:26901)
 Strong Strong Moderate Strong Strong Strong
DAXX
(HGNC:2681)
 Weak Weak Weak Weak Weak Weak
ANKS6
(HGNC:26724)
 Moderate Moderate Moderate Moderate Strong Strong
HGSNAT
(HGNC:26527)
 Strong Moderate Moderate Strong Strong Strong
BBS12
(HGNC:26648)
 Moderate Moderate Strong Strong Strong Strong
CD55
(HGNC:2665)
 Moderate Moderate Moderate Strong Moderate Strong
UNC80
(HGNC:26582)
 Strong Moderate Moderate Strong Moderate Strong
KY
(HGNC:26576)
 Strong Strong Moderate Strong Strong Strong
CYP7B1
(HGNC:2652)
 Moderate Weak Strong Strong Strong Strong
Showing 1301–1320 of 2035