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
|
|