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 |
|
SLC11A2
(HGNC:10908)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
SIX3
(HGNC:10889)
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
DST
(HGNC:1090)
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
SLC10A1
(HGNC:10905)
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
PMEL
(HGNC:10880)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Strong
|
|
|
ST3GAL5
(HGNC:10872)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
STIL
(HGNC:10879)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
|
|
SH3BP2
(HGNC:10825)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SGPL1
(HGNC:10817)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
SGSH
(HGNC:10818)
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
SFTPA1
(HGNC:10798)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
SF3B4
(HGNC:10771)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Strong
|
|
|
SGCD
(HGNC:10807)
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
BMPR1B
(HGNC:1077)
|
Weak
|
Weak
|
Strong
|
Strong
|
Weak
|
Strong
|
|
|
SEC23B
(HGNC:10702)
|
Weak
|
Moderate
|
Weak
|
Weak
|
Weak
|
Moderate
|
|
|
SEMA3A
(HGNC:10723)
|
Weak
|
Weak
|
Weak
|
Moderate
|
Weak
|
Moderate
|
|
|
SEC24D
(HGNC:10706)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
BMP15
(HGNC:1068)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
|
|
BMP1
(HGNC:1067)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CWC27
(HGNC:10664)
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|