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 |
|
AP1B1
(HGNC:554)
|
Strong
|
Strong
|
Weak
|
Moderate
|
Strong
|
Strong
|
|
|
IDH3A
(HGNC:5384)
|
Strong
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
ID3
(HGNC:5362)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
TNC
(HGNC:5318)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
HS6ST1
(HGNC:5201)
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
HPGD
(HGNC:5154)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
HNRNPH2
(HGNC:5042)
|
Strong
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
HNRNPH1
(HGNC:5041)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
HNRNPDL
(HGNC:5037)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
HNRNPA1
(HGNC:5031)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
HLF
(HGNC:4977)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
HIRA
(HGNC:4916)
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
HEY1
(HGNC:4880)
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
Weak
|
|
|
HERC1
(HGNC:4867)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
ANGPT2
(HGNC:485)
|
Weak
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
HCFC1
(HGNC:4839)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
HBQ1
(HGNC:4833)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
ABCB6
(HGNC:47)
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
|
|
H3C3
(HGNC:4768)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
H3-3B
(HGNC:4765)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|