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 |
|
SALL4
(HGNC:15924)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
MYH7B
(HGNC:15906)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
ABHD12
(HGNC:15868)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PRPF6
(HGNC:15860)
|
Moderate
|
Strong
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
RBCK1
(HGNC:15864)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
HPS4
(HGNC:15844)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CCNC
(HGNC:1581)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Weak
|
|
|
OBSCN
(HGNC:15719)
|
Moderate
|
Weak
|
Weak
|
Strong
|
Moderate
|
Weak
|
|
|
CCND3
(HGNC:1585)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
PHIP
(HGNC:15673)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
KLHL7
(HGNC:15646)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
ADNP
(HGNC:15766)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ALG9
(HGNC:15672)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Strong
|
|
|
LDB3
(HGNC:15710)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
CHCHD10
(HGNC:15559)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
PDE4DIP
(HGNC:15580)
|
Weak
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
|
|
NBAS
(HGNC:15625)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
JAM3
(HGNC:15532)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
ARHGEF7
(HGNC:15607)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
TRIM8
(HGNC:15579)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|