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Variant Pathogenicity
KMT2A
Name
KMT2A
HGNC ID
HGNC:7132
Cytogenetic Location
11q23.3
Haploinsufficiency
Sufficient Evidence
Triplosensitivity
No Evidence
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ClinVar Variants
KMT2A
-
Wiedemann-Steiner syndrome
| MONDO:0011518
Curated by
Classification
Date
Report
Gene Dosage Sensitivity
Sufficient Evidence for Haploinsufficiency
08/28/2019
View report
KMT2A
Curated by
Classification
Date
Report
Gene Dosage Sensitivity
Sufficient Evidence for Haploinsufficiency
08/28/2019
View report
Gene Dosage Sensitivity
No Evidence for Triplosensitivity
08/28/2019
View report
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Gene Dosage Sensitivity