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 |
|
CDH11
(HGNC:1750)
|
Weak
|
Weak
|
Weak
|
Strong
|
Weak
|
Weak
|
|
|
GJC2
(HGNC:17494)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Moderate
|
|
|
ZFPM2
(HGNC:16700)
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
TPK1
(HGNC:17358)
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
|
|
CDC42
(HGNC:1736)
|
Strong
|
Moderate
|
Strong
|
Weak
|
Strong
|
Moderate
|
|
|
CDK13
(HGNC:1733)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Moderate
|
|
|
PRPF8
(HGNC:17340)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|
|
WAC
(HGNC:17327)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SP7
(HGNC:17321)
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Weak
|
Weak
|
|
|
RRM2B
(HGNC:17296)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
RIMS1
(HGNC:17282)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Weak
|
|
|
BCAP31
(HGNC:16695)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CENPJ
(HGNC:17272)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
BICD2
(HGNC:17208)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
RRAS2
(HGNC:17271)
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
SLC39A4
(HGNC:17129)
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
LARS2
(HGNC:17095)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CFHR3
(HGNC:16980)
|
Strong
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Strong
|
|
|
CDAN1
(HGNC:1713)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
ADAMTS17
(HGNC:17109)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|