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 |
|
MEGF10
(HGNC:29634)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
IARS2
(HGNC:29685)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
LIPT1
(HGNC:29569)
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
MTFMT
(HGNC:29666)
|
Strong
|
Weak
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
NEXMIF
(HGNC:29433)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
PLPPR2
(HGNC:29566)
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
DNASE1L3
(HGNC:2959)
|
Strong
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
|
|
CCBE1
(HGNC:29426)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
C12orf57
(HGNC:29521)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
KIDINS220
(HGNC:29508)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Weak
|
Moderate
|
|
|
DNAH9
(HGNC:2953)
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
DNAH6
(HGNC:2951)
|
Weak
|
Weak
|
Weak
|
Moderate
|
Weak
|
Moderate
|
|
|
EARS2
(HGNC:29419)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
TET1
(HGNC:29484)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
|
|
GPSM2
(HGNC:29501)
|
Moderate
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
ROGDI
(HGNC:29478)
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
DNA2
(HGNC:2939)
|
Weak
|
Weak
|
Strong
|
Moderate
|
Weak
|
Moderate
|
|
|
ASXL3
(HGNC:29357)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
DNAH1
(HGNC:2940)
|
Weak
|
Weak
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
MYSM1
(HGNC:29401)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
|