Proband Tables
Summaries focusing on proband-level evidence; browse by gene.
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| Gene |
Allelic Consistency |
Phenotypic Consistency |
Penetrance |
Ethnic Diversity |
Inheritance Consistency |
Mechanism of disease |
Actions |
|
KLHL7
(HGNC:15646)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
ADNP
(HGNC:15766)
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
ALG9
(HGNC:15672)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Weak
|
Strong
|
|
|
LDB3
(HGNC:15710)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
CHCHD10
(HGNC:15559)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
PDE4DIP
(HGNC:15580)
|
Weak
|
Weak
|
Weak
|
Strong
|
Weak
|
Weak
|
|
|
NBAS
(HGNC:15625)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
JAM3
(HGNC:15532)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
ARHGEF7
(HGNC:15607)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
TRIM8
(HGNC:15579)
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
IL36RN
(HGNC:15561)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
XYLT2
(HGNC:15517)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CBFB
(HGNC:1539)
|
Strong
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Strong
|
|
|
LPAR6
(HGNC:15520)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PUS1
(HGNC:15508)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
SERPINH1
(HGNC:1546)
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
ANKH
(HGNC:15492)
|
Moderate
|
Weak
|
Weak
|
Strong
|
Strong
|
Weak
|
|
|
XYLT1
(HGNC:15516)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
RUNX1T1
(HGNC:1535)
|
Strong
|
Moderate
|
Weak
|
Moderate
|
Weak
|
Strong
|
|
|
GPHN
(HGNC:15465)
|
Weak
|
Weak
|
Strong
|
Strong
|
Weak
|
Weak
|
|