Proband Tables
Summaries focusing on proband-level evidence; browse by gene.
Need updated, customized, evidence‑backed summaries?
Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
| Gene |
Allelic Consistency |
Phenotypic Consistency |
Penetrance |
Ethnic Diversity |
Inheritance Consistency |
Mechanism of disease |
Actions |
|
DAG1
(HGNC:2666)
|
Weak
|
Weak
|
Weak
|
Strong
|
Weak
|
Strong
|
|
|
OTOGL
(HGNC:26901)
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
DAXX
(HGNC:2681)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
ANKS6
(HGNC:26724)
|
Weak
|
Weak
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
HGSNAT
(HGNC:26527)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
BBS12
(HGNC:26648)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CD55
(HGNC:2665)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
|
|
UNC80
(HGNC:26582)
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Weak
|
Strong
|
|
|
KY
(HGNC:26576)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CYP7B1
(HGNC:2652)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
NARS2
(HGNC:26274)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
LOXHD1
(HGNC:26521)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
CTC1
(HGNC:26169)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
|
|
SCLT1
(HGNC:26406)
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
PIEZO2
(HGNC:26270)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
TMEM70
(HGNC:26050)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Strong
|
|
|
MARVELD2
(HGNC:26401)
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
PDZD7
(HGNC:26257)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
CCDC40
(HGNC:26090)
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
NSUN2
(HGNC:25994)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|