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 |
|
SETD1B
(HGNC:29187)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
ANKRD26
(HGNC:29186)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Moderate
|
|
|
DLX3
(HGNC:2916)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
PLEKHG5
(HGNC:29105)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
DLL4
(HGNC:2910)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Moderate
|
|
|
DLL3
(HGNC:2909)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
DDHD2
(HGNC:29106)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
TELO2
(HGNC:29099)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
OBSL1
(HGNC:29092)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SMCHD1
(HGNC:29090)
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Moderate
|
|
|
IQSEC2
(HGNC:29059)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
—
|
|
|
IFT140
(HGNC:29077)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
Strong
|
|
|
DLL1
(HGNC:2908)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
DLK1
(HGNC:2907)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SPECC1L
(HGNC:29022)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
DSTYK
(HGNC:29043)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
SZT2
(HGNC:29040)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
DLD
(HGNC:2898)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
DLAT
(HGNC:2896)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
WASHC5
(HGNC:28984)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|