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 |
|
P4HTM
(HGNC:28858)
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
SYCE1
(HGNC:28852)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
B3GALNT2
(HGNC:28596)
|
Weak
|
Weak
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
DHCR24
(HGNC:2859)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
DIAPH1
(HGNC:2876)
|
Strong
|
Weak
|
Strong
|
Strong
|
Weak
|
Strong
|
|
|
ILDR1
(HGNC:28741)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
DIS3L2
(HGNC:28648)
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
NDUFAF6
(HGNC:28625)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
RICTOR
(HGNC:28611)
|
Moderate
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
|
|
DGKE
(HGNC:2852)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
MFSD8
(HGNC:28486)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
TRMT10A
(HGNC:28403)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
TMEM43
(HGNC:28472)
|
Weak
|
Weak
|
Strong
|
Weak
|
Strong
|
Moderate
|
|
|
TBCK
(HGNC:28261)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
THOC6
(HGNC:28369)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
DGAT1
(HGNC:2843)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CCNQ
(HGNC:28434)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
D2HGDH
(HGNC:28358)
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
Strong
|
|
|
NIPAL4
(HGNC:28018)
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
GSDME
(HGNC:2810)
|
Strong
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
|